Linked Data
ClinVar Variation Id:
402146
ClinVar RCV Id:
RCV000454308
dbSNP Id:
rs1060499742
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60071229G>A , CM000672.2:g.60071229G>A | GRCh38 |
| NC_000010.10:g.61830987G>A , CM000672.1:g.61830987G>A | GRCh37 |
| NC_000010.9:g.61500993G>A | NCBI36 |
| NG_029917.1:g.667298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467420.7:c.4490-3220C>T | ENSP00000423968.2:n.4490-3220C>T | |
| ENST00000503366.6:c.4409-3220C>T | ENSP00000425236.1:n.4409-3220C>T | |
| ENST00000280772.7:c.9652C>T MANE Select | ENSP00000280772.1:p.Leu3218Phe | |
| ENST00000280772.6:c.9652C>T | ENSP00000280772.1:p.Leu3218Phe | |
| ENST00000355288.6:c.1808-3220C>T | ENSP00000347436.2:n.1808-3220C>T | |
| ENST00000373820.5:c.182-3220C>T | ENSP00000362926.1:n.182-3220C>T | |
| ENST00000373827.6:c.4388-3220C>T | ENSP00000362933.2:n.4388-3220C>T | |
| ENST00000503366.5:c.4409-3220C>T | ENSP00000425236.1:n.4409-3220C>T | |
| ENST00000511043.5:c.85-3220C>T | ||
| ENST00000610321.4:c.4040+2643C>T | ||
| ENST00000616444.4:c.1224-3220C>T | ||
| ENST00000618374.4:c.1808-3220C>T | ENSP00000479018.1:n.1808-3220C>T | |
| ENST00000621739.1:c.1341C>T | ||
| NM_001149.3:c.1808-3220C>T | NP_001140.2:n.1808-3220C>T | |
| NM_001204403.1:c.4388-3220C>T | NP_001191332.1:n.4388-3220C>T | |
| NM_001204404.1:c.4409-3220C>T | NP_001191333.1:n.4409-3220C>T | |
| NM_020987.3:c.9652C>T | NP_066267.2:p.Leu3218Phe | |
| XM_005269715.2:c.4460-3220C>T | XP_005269772.1:n.4460-3220C>T | |
| XM_005269716.2:c.4406-3220C>T | XP_005269773.1:n.4406-3220C>T | |
| XM_006717791.2:c.7081+2643C>T | XP_006717854.1:n.7081+2643C>T | |
| XM_006717793.2:c.7081+2643C>T | XP_006717856.1:n.7081+2643C>T | |
| XM_006717795.2:c.7081+2643C>T | XP_006717858.1:n.7081+2643C>T | |
| XM_006717796.2:c.7081+2643C>T | XP_006717859.1:n.7081+2643C>T | |
| XM_006717802.2:c.4499-3220C>T | XP_006717865.1:n.4499-3220C>T | |
| XM_011539700.1:c.7069+2643C>T | XP_011538002.1:n.7069+2643C>T | |
| XM_011539701.1:c.7063+2643C>T | XP_011538003.1:n.7063+2643C>T | |
| XM_011539702.1:c.7024+2643C>T | XP_011538004.1:n.7024+2643C>T | |
| XM_011539703.1:c.7003+2643C>T | XP_011538005.1:n.7003+2643C>T | |
| XM_011539704.1:c.6982+2643C>T | XP_011538006.1:n.6982+2643C>T | |
| XM_011539705.1:c.6982+2643C>T | XP_011538007.1:n.6982+2643C>T | |
| XM_011539706.1:c.6970+2643C>T | XP_011538008.1:n.6970+2643C>T | |
| XM_011539707.1:c.7081+2643C>T | XP_011538009.1:n.7081+2643C>T | |
| XM_011539708.1:c.7081+2643C>T | XP_011538010.1:n.7081+2643C>T | |
| XM_011539709.1:c.7081+2643C>T | XP_011538011.1:n.7081+2643C>T | |
| XM_011539710.1:c.4499-3220C>T | XP_011538012.1:n.4499-3220C>T | |
| XM_011539711.1:c.4472-3220C>T | XP_011538013.1:n.4472-3220C>T | |
| XM_011539712.1:c.4463-3220C>T | XP_011538014.1:n.4463-3220C>T | |
| XM_011539713.1:c.4436-3220C>T | XP_011538015.1:n.4436-3220C>T | |
| XM_011539714.1:c.4429+2643C>T | XP_011538016.1:n.4429+2643C>T | |
| XM_011539715.1:c.4417+2643C>T | XP_011538017.1:n.4417+2643C>T | |
| XM_011539716.1:c.4472-3220C>T | XP_011538018.1:n.4472-3220C>T | |
| XM_011539717.1:c.4460-3220C>T | XP_011538019.1:n.4460-3220C>T | |
| XM_011539718.1:c.4343-3220C>T | XP_011538020.1:n.4343-3220C>T | |
| NM_001320874.1:c.4406-3220C>T | NP_001307803.1:n.4406-3220C>T | |
| NM_020987.4:c.9652C>T | NP_066267.2:p.Leu3218Phe | |
| XM_005269715.3:c.4460-3220C>T | XP_005269772.1:n.4460-3220C>T | |
| XM_006717796.3:c.7081+2643C>T | XP_006717859.1:n.7081+2643C>T | |
| XM_006717802.3:c.4499-3220C>T | XP_006717865.1:n.4499-3220C>T | |
| XM_011539708.2:c.7081+2643C>T | XP_011538010.1:n.7081+2643C>T | |
| XM_011539709.2:c.7081+2643C>T | XP_011538011.1:n.7081+2643C>T | |
| XM_017016110.1:c.9724C>T | XP_016871599.1:p.Leu3242Phe | |
| XM_017016111.1:c.9712C>T | XP_016871600.1:p.Leu3238Phe | |
| XM_017016112.1:c.9709C>T | XP_016871601.1:p.Leu3237Phe | |
| XM_017016113.1:c.9697C>T | XP_016871602.1:p.Leu3233Phe | |
| XM_017016114.1:c.9673C>T | XP_016871603.1:p.Leu3225Phe | |
| XM_017016115.1:c.9646C>T | XP_016871604.1:p.Leu3216Phe | |
| XM_017016116.1:c.9724C>T | XP_016871605.1:p.Leu3242Phe | |
| XM_017016117.1:c.9724C>T | XP_016871606.1:p.Leu3242Phe | |
| XM_017016118.1:c.9724C>T | XP_016871607.1:p.Leu3242Phe | |
| XM_017016119.1:c.9724C>T | XP_016871608.1:p.Leu3242Phe | |
| XM_017016120.1:c.9724C>T | XP_016871609.1:p.Leu3242Phe | |
| XM_017016121.1:c.9697C>T | XP_016871610.1:p.Leu3233Phe | |
| XM_017016122.1:c.6988+2643C>T | XP_016871611.1:n.6988+2643C>T | |
| XM_017016123.1:c.7081+2643C>T | XP_016871612.1:n.7081+2643C>T | |
| XM_017016124.1:c.7054+2643C>T | XP_016871613.1:n.7054+2643C>T | |
| XM_017016125.1:c.7054+2643C>T | XP_016871614.1:n.7054+2643C>T | |
| XM_017016126.1:c.6949+2643C>T | XP_016871615.1:n.6949+2643C>T | |
| XM_017016127.1:c.6922+2643C>T | XP_016871616.1:n.6922+2643C>T | |
| XM_017016128.1:c.4472-3220C>T | XP_016871617.1:n.4472-3220C>T | |
| XM_017016129.1:c.4472-3220C>T | XP_016871618.1:n.4472-3220C>T | |
| XM_017016130.1:c.4406-3220C>T | XP_016871619.1:n.4406-3220C>T | |
| XM_017016131.1:c.4391-3220C>T | XP_016871620.1:n.4391-3220C>T | |
| XM_017016132.1:c.4370-3220C>T | XP_016871621.1:n.4370-3220C>T | |
| XM_017016134.1:c.4340-3220C>T | XP_016871623.1:n.4340-3220C>T | |
| XM_017016136.1:c.4499-3220C>T | XP_016871625.1:n.4499-3220C>T | |
| XM_017016137.1:c.4472-3220C>T | XP_016871626.1:n.4472-3220C>T | |
| XM_017016138.1:c.4472-3220C>T | XP_016871627.1:n.4472-3220C>T | |
| XM_017016141.1:c.4367-3220C>T | XP_016871630.1:n.4367-3220C>T | |
| XM_024447953.1:c.9697C>T | XP_024303721.1:p.Leu3233Phe | |
| XM_024447954.1:c.9670C>T | XP_024303722.1:p.Leu3224Phe | |
| XM_024447955.1:c.9661C>T | XP_024303723.1:p.Leu3221Phe | |
| XM_024447956.1:c.9658C>T | XP_024303724.1:p.Leu3220Phe | |
| XM_024447957.1:c.9625C>T | XP_024303725.1:p.Leu3209Phe | |
| XM_024447958.1:c.9607C>T | XP_024303726.1:p.Leu3203Phe | |
| XM_024447959.1:c.9607C>T | XP_024303727.1:p.Leu3203Phe | |
| XM_024447960.1:c.9595C>T | XP_024303728.1:p.Leu3199Phe | |
| XM_024447961.1:c.9592C>T | XP_024303729.1:p.Leu3198Phe | |
| XM_024447962.1:c.9697C>T | XP_024303730.1:p.Leu3233Phe | |
| XM_024447963.1:c.7081+2643C>T | XP_024303731.1:n.7081+2643C>T | |
| XM_024447964.1:c.4436-3220C>T | XP_024303732.1:n.4436-3220C>T | |
| XM_024447965.1:c.4463-3220C>T | XP_024303733.1:n.4463-3220C>T | |
| NM_020987.5:c.9652C>T MANE Select | NP_066267.2:p.Leu3218Phe | |
| NM_001204403.2:c.4388-3220C>T | NP_001191332.1:n.4388-3220C>T | |
| NM_001204404.2:c.4409-3220C>T | NP_001191333.1:n.4409-3220C>T | |
| NM_001320874.2:c.4406-3220C>T | NP_001307803.1:n.4406-3220C>T | |
| NM_001149.4:c.1808-3220C>T | NP_001140.2:n.1808-3220C>T |