Linked Data
ClinVar Variation Id:
514005
ClinVar RCV Id:
RCV000607431
dbSNP Id:
rs1000188907
gnomAD v2:
11-68609278-A-G
gnomAD v3:
11-68841810-A-G
gnomAD v4:
11-68841810-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68841810A>G , CM000673.2:g.68841810A>G | GRCh38 |
| NC_000011.9:g.68609278A>G , CM000673.1:g.68609278A>G | GRCh37 |
| NC_000011.8:g.68365854A>G | NCBI36 |
| NG_011801.1:g.5122T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.-49T>C MANE Select | ENSP00000265641.4:n.-49T>C | |
| ENST00000265641.9:c.-49T>C | ENSP00000265641.4:n.-49T>C | |
| ENST00000376618.6:c.-49T>C | ENSP00000365803.2:n.-49T>C | |
| ENST00000561996.1:c.-14+2335T>C | ENSP00000457663.1:n.-14+2335T>C | |
| NM_001031847.2:c.-49T>C | NP_001027017.1:n.-49T>C | |
| NM_001876.3:c.-49T>C | NP_001867.2:n.-49T>C | |
| XM_017017220.1:c.-14+2335T>C | XP_016872709.1:n.-14+2335T>C | |
| NM_001876.4:c.-49T>C MANE Select | NP_001867.2:n.-49T>C | |
| NM_001031847.3:c.-49T>C | NP_001027017.1:n.-49T>C |