Linked Data
ClinVar Variation Id:
2726548
dbSNP Id:
rs762743272
ExAC:
2:98349355 G / A
gnomAD v2:
2-98349355-G-A
gnomAD v4:
2-97732892-G-A
COSMIC:
COSM303589
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97732892G>A , CM000664.2:g.97732892G>A | GRCh38 |
| NC_000002.11:g.98349355G>A , CM000664.1:g.98349355G>A | GRCh37 |
| NC_000002.10:g.97715787G>A | NCBI36 |
| NG_007727.1:g.24325G>A , LRG_126:g.24325G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698508.1:c.573G>A | ENSP00000513759.1:p.Pro191= | |
| ENST00000698509.1:n.713G>A | ||
| ENST00000264972.10:c.573G>A MANE Select | ENSP00000264972.5:p.Pro191= | |
| ENST00000264972.9:c.573G>A | ENSP00000264972.5:p.Pro191= | |
| ENST00000463643.5:n.434G>A | ||
| ENST00000483781.5:n.766G>A | ||
| ENST00000498836.5:n.191G>A | ||
| NM_001079.3:c.573G>A , LRG_126t1:c.573G>A | NP_001070.2:p.Pro191= | |
| XM_005264015.3:c.573G>A | XP_005264072.1:p.Pro191= | |
| XM_006712728.2:c.573G>A | XP_006712791.1:p.Pro191= | |
| XM_011511783.1:c.573G>A | XP_011510085.1:p.Pro191= | |
| XR_923018.1:n.775G>A | ||
| XR_923019.1:n.775G>A | ||
| XR_923020.1:n.775G>A | ||
| XM_017004867.1:c.942G>A | XP_016860356.1:p.Pro314= | |
| XM_017004868.1:c.942G>A | XP_016860357.1:p.Pro314= | |
| XM_017004869.1:c.942G>A | XP_016860358.1:p.Pro314= | |
| XM_017004870.1:c.942G>A | XP_016860359.1:p.Pro314= | |
| XR_001738925.1:n.2181G>A | ||
| XR_001738926.1:n.2181G>A | ||
| XR_001738927.1:n.2181G>A | ||
| NM_001079.4:c.573G>A MANE Select | NP_001070.2:p.Pro191= | |
| NM_001378594.1:c.573G>A | NP_001365523.1:p.Pro191= |