Linked Data
ClinVar Variation Id:
305816
dbSNP Id:
rs370572421
ExAC:
11:67817606 C / T
gnomAD v2:
11-67817606-C-T
gnomAD v3:
11-68050139-C-T
gnomAD v4:
11-68050139-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68050139C>T , CM000673.2:g.68050139C>T | GRCh38 |
| NC_000011.9:g.67817606C>T , CM000673.1:g.67817606C>T | GRCh37 |
| NC_000011.8:g.67574182C>T | NCBI36 |
| NG_007878.1:g.16124C>T , LRG_115:g.16124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.1114C>T | ||
| ENST00000698254.1:c.1650C>T | ENSP00000513629.1:p.Leu550= | |
| ENST00000698255.1:c.2070C>T | ENSP00000513630.1:p.Leu690= | |
| ENST00000698256.1:c.1587C>T | ||
| ENST00000698257.1:n.1539C>T | ||
| ENST00000698258.1:n.1256C>T | ||
| ENST00000698259.1:n.1390C>T | ||
| ENST00000265686.8:c.2121C>T MANE Select | ENSP00000265686.3:p.Leu707= | |
| ENST00000265686.7:c.2121C>T | ENSP00000265686.3:p.Leu707= | |
| ENST00000524870.1:n.749C>T | ||
| ENST00000525724.5:n.1433C>T | ||
| ENST00000530063.1:c.24C>T | ENSP00000432957.1:p.Leu8= | |
| ENST00000530449.1:n.17C>T | ||
| ENST00000532635.5:c.1473C>T | ENSP00000434407.1:p.Leu491= | |
| ENST00000533005.5:n.1234C>T | ||
| NM_006019.3:c.2121C>T | NP_006010.2:p.Leu707= | |
| NM_006053.3:c.1473C>T | NP_006044.1:p.Leu491= | |
| XM_005273709.2:c.2121C>T | XP_005273766.1:p.Leu707= | |
| XM_011544726.1:c.2121C>T | XP_011543028.1:p.Leu707= | |
| XM_011544727.1:c.2121C>T | XP_011543029.1:p.Leu707= | |
| XR_949754.1:n.2268C>T | ||
| NM_001351059.1:c.1227C>T | NP_001337988.1:p.Leu409= | |
| XM_024448320.1:c.2214C>T | XP_024304088.1:p.Leu738= | |
| XM_024448321.1:c.2214C>T | XP_024304089.1:p.Leu738= | |
| XM_024448322.1:c.2214C>T | XP_024304090.1:p.Leu738= | |
| XM_024448323.1:c.2214C>T | XP_024304091.1:p.Leu738= | |
| XR_001747721.2:n.2290C>T | ||
| XR_001747722.1:n.2258C>T | ||
| XR_001747723.2:n.2303C>T | ||
| XR_002957115.1:n.2479C>T | ||
| NM_006019.4:c.2121C>T MANE Select | NP_006010.2:p.Leu707= | |
| NM_001351059.2:c.1227C>T | NP_001337988.1:p.Leu409= | |
| NM_006053.4:c.1473C>T | NP_006044.1:p.Leu491= |