Linked Data
ClinVar Variation Id:
18011
dbSNP Id:
rs121909551
ExAC:
1:173883881 G / A
gnomAD v2:
1-173883881-G-A
gnomAD v3:
1-173914743-G-A
gnomAD v4:
1-173914743-G-A
PubMed:
PMID:1536946
PMID:2372510
PMID:2615648
PMID:2794060
PMID:3080419
PMID:3663508
PMID:23910795
PMID:24956267
PMID:27322195
ERepo:
CA210756/MONDO:0013144/084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173914743G>A , CM000663.2:g.173914743G>A | GRCh38 |
| NC_000001.10:g.173883881G>A , CM000663.1:g.173883881G>A | GRCh37 |
| NC_000001.9:g.172150504G>A | NCBI36 |
| NG_012462.1:g.7636C>T , LRG_577:g.7636C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.218C>T MANE Select | ENSP00000356671.3:p.Pro73Leu | |
| ENST00000367698.3:c.218C>T | ENSP00000356671.3:p.Pro73Leu | |
| ENST00000494024.1:n.444C>T | ||
| ENST00000617423.4:c.218C>T | ENSP00000478688.1:p.Pro73Leu | |
| NM_000488.3:c.218C>T , LRG_577t1:c.218C>T | NP_000479.1:p.Pro73Leu | |
| XM_005245198.2:c.74C>T | XP_005245255.1:p.Pro25Leu | |
| NM_001365052.1:c.74C>T | NP_001351981.1:p.Pro25Leu | |
| NM_000488.4:c.218C>T MANE Select | NP_000479.1:p.Pro73Leu | |
| NM_001365052.2:c.74C>T | NP_001351981.1:p.Pro25Leu | |
| NM_001386302.1:c.218C>T | NP_001373231.1:p.Pro73Leu | |
| NM_001386303.1:c.299C>T | NP_001373232.1:p.Pro100Leu | |
| NM_001386304.1:c.218C>T | NP_001373233.1:p.Pro73Leu | |
| NM_001386305.1:c.218C>T | NP_001373234.1:p.Pro73Leu | |
| NM_001386306.1:c.218C>T | NP_001373235.1:p.Pro73Leu |