Linked Data
ClinVar Variation Id:
37219
ClinVar RCV Id:
RCV003407374
dbSNP Id:
rs146645381
ExAC:
4:76489574 G / A
gnomAD v2:
4-76489574-G-A
gnomAD v3:
4-75564364-G-A
gnomAD v4:
4-75564364-G-A
PubMed:
PMID:22901946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.75564364G>A , CM000666.2:g.75564364G>A | GRCh38 |
| NC_000004.11:g.76489574G>A , CM000666.1:g.76489574G>A | GRCh37 |
| NC_000004.10:g.76708598G>A | NCBI36 |
| NG_032974.1:g.13317G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311623.9:c.318G>A MANE Select | ENSP00000311307.5:p.Trp106Ter | |
| ENST00000311623.8:c.318G>A | ENSP00000311307.4:p.Trp106Ter | |
| ENST00000435974.2:c.362G>A | ENSP00000406925.2:p.Gly121Asp | |
| ENST00000511093.5:c.*220-24G>A | ENSP00000421429.1:n.*220-24G>A | |
| ENST00000616557.1:c.207-24G>A | ENSP00000479147.1:n.207-24G>A | |
| NM_001206981.1:c.362G>A | NP_001193910.1:p.Gly121Asp | |
| NM_001257072.1:c.207-24G>A | NP_001244001.1:n.207-24G>A | |
| NM_178497.3:c.318G>A | NP_848592.2:p.Trp106Ter | |
| NR_046429.1:n.397-24G>A | ||
| NR_046430.1:n.378-24G>A | ||
| XM_011531668.1:c.362G>A | XP_011529970.1:p.Gly121Asp | |
| XM_011531668.2:c.362G>A | XP_011529970.1:p.Gly121Asp | |
| NM_001206981.2:c.362G>A | NP_001193910.1:p.Gly121Asp | |
| NM_178497.5:c.318G>A MANE Select | NP_848592.2:p.Trp106Ter | |
| NR_046429.2:n.379-24G>A | ||
| NR_046430.2:n.360-24G>A | ||
| NM_001257072.2:c.207-24G>A | NP_001244001.1:n.207-24G>A | |
| NR_046429.3:n.379-24G>A | ||
| NR_046430.3:n.360-24G>A |