Linked Data
ClinVar Variation Id:
46010
dbSNP Id:
rs371932558
ExAC:
10:73553111 A / G
gnomAD v2:
10-73553111-A-G
gnomAD v3:
10-71793354-A-G
gnomAD v4:
10-71793354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71793354A>G , CM000672.2:g.71793354A>G | GRCh38 |
| NC_000010.10:g.73553111A>G , CM000672.1:g.73553111A>G | GRCh37 |
| NC_000010.9:g.73223117A>G | NCBI36 |
| NG_008835.1:g.401408A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6426A>G MANE Select | ENSP00000224721.9:p.Leu2142= | |
| ENST00000224721.10:c.6441A>G | ENSP00000224721.8:p.Leu2147= | |
| ENST00000622827.4:c.6426A>G | ENSP00000483211.1:p.Leu2142= | |
| NM_022124.5:c.6426A>G | NP_071407.4:p.Leu2142= | |
| XM_006717940.2:c.6621A>G | XP_006718003.1:p.Leu2207= | |
| XM_006717942.2:c.6555A>G | XP_006718005.1:p.Leu2185= | |
| XM_011540039.1:c.6618A>G | XP_011538341.1:p.Leu2206= | |
| XM_011540040.1:c.6615A>G | XP_011538342.1:p.Leu2205= | |
| XM_011540041.1:c.6561A>G | XP_011538343.1:p.Leu2187= | |
| XM_011540042.1:c.6577+44A>G | XP_011538344.1:n.6577+44A>G | |
| XM_011540043.1:c.6621A>G | XP_011538345.1:p.Leu2207= | |
| XM_011540044.1:c.6486A>G | XP_011538346.1:p.Leu2162= | |
| XM_011540045.1:c.6621A>G | XP_011538347.1:p.Leu2207= | |
| XM_011540046.1:c.6081A>G | XP_011538348.1:p.Leu2027= | |
| XM_011540047.1:c.5439A>G | XP_011538349.1:p.Leu1813= | |
| XM_011540048.1:c.6621A>G | XP_011538350.1:p.Leu2207= | |
| XM_011540049.1:c.6621A>G | XP_011538351.1:p.Leu2207= | |
| XM_011540050.1:c.6621A>G | XP_011538352.1:p.Leu2207= | |
| XM_011540051.1:c.6621A>G | XP_011538353.1:p.Leu2207= | |
| XM_011540052.1:c.2949A>G | XP_011538354.1:p.Leu983= | |
| XR_945796.1:n.6864A>G | ||
| NM_022124.6:c.6426A>G MANE Select | NP_071407.4:p.Leu2142= |