Linked Data
ClinVar Variation Id:
128384
dbSNP Id:
rs28932171
ExAC:
10:61831290 T / C
gnomAD v2:
10-61831290-T-C
gnomAD v3:
10-60071532-T-C
gnomAD v4:
10-60071532-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60071532T>C , CM000672.2:g.60071532T>C | GRCh38 |
| NC_000010.10:g.61831290T>C , CM000672.1:g.61831290T>C | GRCh37 |
| NC_000010.9:g.61501296T>C | NCBI36 |
| NG_029917.1:g.666995A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467420.7:c.4490-3523A>G | ENSP00000423968.2:n.4490-3523A>G | |
| ENST00000503366.6:c.4409-3523A>G | ENSP00000425236.1:n.4409-3523A>G | |
| ENST00000280772.7:c.9349A>G MANE Select | ENSP00000280772.1:p.Ile3117Val | |
| ENST00000280772.6:c.9349A>G | ENSP00000280772.1:p.Ile3117Val | |
| ENST00000355288.6:c.1808-3523A>G | ENSP00000347436.2:n.1808-3523A>G | |
| ENST00000373820.5:c.182-3523A>G | ENSP00000362926.1:n.182-3523A>G | |
| ENST00000373827.6:c.4388-3523A>G | ENSP00000362933.2:n.4388-3523A>G | |
| ENST00000503366.5:c.4409-3523A>G | ENSP00000425236.1:n.4409-3523A>G | |
| ENST00000511043.5:c.85-3523A>G | ||
| ENST00000610321.4:c.4040+2340A>G | ||
| ENST00000616444.4:c.1224-3523A>G | ||
| ENST00000618374.4:c.1808-3523A>G | ENSP00000479018.1:n.1808-3523A>G | |
| ENST00000621739.1:c.1038A>G | ||
| NM_001149.3:c.1808-3523A>G | NP_001140.2:n.1808-3523A>G | |
| NM_001204403.1:c.4388-3523A>G | NP_001191332.1:n.4388-3523A>G | |
| NM_001204404.1:c.4409-3523A>G | NP_001191333.1:n.4409-3523A>G | |
| NM_020987.3:c.9349A>G | NP_066267.2:p.Ile3117Val | |
| XM_005269715.2:c.4460-3523A>G | XP_005269772.1:n.4460-3523A>G | |
| XM_005269716.2:c.4406-3523A>G | XP_005269773.1:n.4406-3523A>G | |
| XM_006717791.2:c.7081+2340A>G | XP_006717854.1:n.7081+2340A>G | |
| XM_006717793.2:c.7081+2340A>G | XP_006717856.1:n.7081+2340A>G | |
| XM_006717795.2:c.7081+2340A>G | XP_006717858.1:n.7081+2340A>G | |
| XM_006717796.2:c.7081+2340A>G | XP_006717859.1:n.7081+2340A>G | |
| XM_006717802.2:c.4499-3523A>G | XP_006717865.1:n.4499-3523A>G | |
| XM_011539700.1:c.7069+2340A>G | XP_011538002.1:n.7069+2340A>G | |
| XM_011539701.1:c.7063+2340A>G | XP_011538003.1:n.7063+2340A>G | |
| XM_011539702.1:c.7024+2340A>G | XP_011538004.1:n.7024+2340A>G | |
| XM_011539703.1:c.7003+2340A>G | XP_011538005.1:n.7003+2340A>G | |
| XM_011539704.1:c.6982+2340A>G | XP_011538006.1:n.6982+2340A>G | |
| XM_011539705.1:c.6982+2340A>G | XP_011538007.1:n.6982+2340A>G | |
| XM_011539706.1:c.6970+2340A>G | XP_011538008.1:n.6970+2340A>G | |
| XM_011539707.1:c.7081+2340A>G | XP_011538009.1:n.7081+2340A>G | |
| XM_011539708.1:c.7081+2340A>G | XP_011538010.1:n.7081+2340A>G | |
| XM_011539709.1:c.7081+2340A>G | XP_011538011.1:n.7081+2340A>G | |
| XM_011539710.1:c.4499-3523A>G | XP_011538012.1:n.4499-3523A>G | |
| XM_011539711.1:c.4472-3523A>G | XP_011538013.1:n.4472-3523A>G | |
| XM_011539712.1:c.4463-3523A>G | XP_011538014.1:n.4463-3523A>G | |
| XM_011539713.1:c.4436-3523A>G | XP_011538015.1:n.4436-3523A>G | |
| XM_011539714.1:c.4429+2340A>G | XP_011538016.1:n.4429+2340A>G | |
| XM_011539715.1:c.4417+2340A>G | XP_011538017.1:n.4417+2340A>G | |
| XM_011539716.1:c.4472-3523A>G | XP_011538018.1:n.4472-3523A>G | |
| XM_011539717.1:c.4460-3523A>G | XP_011538019.1:n.4460-3523A>G | |
| XM_011539718.1:c.4343-3523A>G | XP_011538020.1:n.4343-3523A>G | |
| NM_001320874.1:c.4406-3523A>G | NP_001307803.1:n.4406-3523A>G | |
| NM_020987.4:c.9349A>G | NP_066267.2:p.Ile3117Val | |
| XM_005269715.3:c.4460-3523A>G | XP_005269772.1:n.4460-3523A>G | |
| XM_006717796.3:c.7081+2340A>G | XP_006717859.1:n.7081+2340A>G | |
| XM_006717802.3:c.4499-3523A>G | XP_006717865.1:n.4499-3523A>G | |
| XM_011539708.2:c.7081+2340A>G | XP_011538010.1:n.7081+2340A>G | |
| XM_011539709.2:c.7081+2340A>G | XP_011538011.1:n.7081+2340A>G | |
| XM_017016110.1:c.9421A>G | XP_016871599.1:p.Ile3141Val | |
| XM_017016111.1:c.9409A>G | XP_016871600.1:p.Ile3137Val | |
| XM_017016112.1:c.9406A>G | XP_016871601.1:p.Ile3136Val | |
| XM_017016113.1:c.9394A>G | XP_016871602.1:p.Ile3132Val | |
| XM_017016114.1:c.9370A>G | XP_016871603.1:p.Ile3124Val | |
| XM_017016115.1:c.9343A>G | XP_016871604.1:p.Ile3115Val | |
| XM_017016116.1:c.9421A>G | XP_016871605.1:p.Ile3141Val | |
| XM_017016117.1:c.9421A>G | XP_016871606.1:p.Ile3141Val | |
| XM_017016118.1:c.9421A>G | XP_016871607.1:p.Ile3141Val | |
| XM_017016119.1:c.9421A>G | XP_016871608.1:p.Ile3141Val | |
| XM_017016120.1:c.9421A>G | XP_016871609.1:p.Ile3141Val | |
| XM_017016121.1:c.9394A>G | XP_016871610.1:p.Ile3132Val | |
| XM_017016122.1:c.6988+2340A>G | XP_016871611.1:n.6988+2340A>G | |
| XM_017016123.1:c.7081+2340A>G | XP_016871612.1:n.7081+2340A>G | |
| XM_017016124.1:c.7054+2340A>G | XP_016871613.1:n.7054+2340A>G | |
| XM_017016125.1:c.7054+2340A>G | XP_016871614.1:n.7054+2340A>G | |
| XM_017016126.1:c.6949+2340A>G | XP_016871615.1:n.6949+2340A>G | |
| XM_017016127.1:c.6922+2340A>G | XP_016871616.1:n.6922+2340A>G | |
| XM_017016128.1:c.4472-3523A>G | XP_016871617.1:n.4472-3523A>G | |
| XM_017016129.1:c.4472-3523A>G | XP_016871618.1:n.4472-3523A>G | |
| XM_017016130.1:c.4406-3523A>G | XP_016871619.1:n.4406-3523A>G | |
| XM_017016131.1:c.4391-3523A>G | XP_016871620.1:n.4391-3523A>G | |
| XM_017016132.1:c.4370-3523A>G | XP_016871621.1:n.4370-3523A>G | |
| XM_017016134.1:c.4340-3523A>G | XP_016871623.1:n.4340-3523A>G | |
| XM_017016136.1:c.4499-3523A>G | XP_016871625.1:n.4499-3523A>G | |
| XM_017016137.1:c.4472-3523A>G | XP_016871626.1:n.4472-3523A>G | |
| XM_017016138.1:c.4472-3523A>G | XP_016871627.1:n.4472-3523A>G | |
| XM_017016141.1:c.4367-3523A>G | XP_016871630.1:n.4367-3523A>G | |
| XM_024447953.1:c.9394A>G | XP_024303721.1:p.Ile3132Val | |
| XM_024447954.1:c.9367A>G | XP_024303722.1:p.Ile3123Val | |
| XM_024447955.1:c.9358A>G | XP_024303723.1:p.Ile3120Val | |
| XM_024447956.1:c.9355A>G | XP_024303724.1:p.Ile3119Val | |
| XM_024447957.1:c.9322A>G | XP_024303725.1:p.Ile3108Val | |
| XM_024447958.1:c.9304A>G | XP_024303726.1:p.Ile3102Val | |
| XM_024447959.1:c.9304A>G | XP_024303727.1:p.Ile3102Val | |
| XM_024447960.1:c.9292A>G | XP_024303728.1:p.Ile3098Val | |
| XM_024447961.1:c.9289A>G | XP_024303729.1:p.Ile3097Val | |
| XM_024447962.1:c.9394A>G | XP_024303730.1:p.Ile3132Val | |
| XM_024447963.1:c.7081+2340A>G | XP_024303731.1:n.7081+2340A>G | |
| XM_024447964.1:c.4436-3523A>G | XP_024303732.1:n.4436-3523A>G | |
| XM_024447965.1:c.4463-3523A>G | XP_024303733.1:n.4463-3523A>G | |
| NM_020987.5:c.9349A>G MANE Select | NP_066267.2:p.Ile3117Val | |
| NM_001204403.2:c.4388-3523A>G | NP_001191332.1:n.4388-3523A>G | |
| NM_001204404.2:c.4409-3523A>G | NP_001191333.1:n.4409-3523A>G | |
| NM_001320874.2:c.4406-3523A>G | NP_001307803.1:n.4406-3523A>G | |
| NM_001149.4:c.1808-3523A>G | NP_001140.2:n.1808-3523A>G |