Linked Data
ClinVar Variation Id:
353502
ClinVar RCV Id:
RCV000326850
dbSNP Id:
rs142426358
gnomAD v2:
5-37814477-T-C
gnomAD v3:
5-37814375-T-C
gnomAD v4:
5-37814375-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37814375T>C , CM000667.2:g.37814375T>C | GRCh38 |
| NC_000005.9:g.37814477T>C , CM000667.1:g.37814477T>C | GRCh37 |
| NC_000005.8:g.37850234T>C | NCBI36 |
| NG_011675.2:g.30306A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326524.7:c.*1276A>G MANE Select | ENSP00000317145.2:n.*1276A>G | |
| ENST00000326524.6:c.*1276A>G | ENSP00000317145.2:n.*1276A>G | |
| ENST00000344622.8:c.*1276A>G | ENSP00000339703.4:n.*1276A>G | |
| ENST00000620847.1:c.*1276A>G | ENSP00000478722.1:n.*1276A>G | |
| NM_000514.3:c.*1276A>G | NP_000505.1:n.*1276A>G | |
| NM_001190468.1:c.*1276A>G | NP_001177397.1:n.*1276A>G | |
| NM_001190469.1:c.*1276A>G | NP_001177398.1:n.*1276A>G | |
| NM_001278098.1:c.*1276A>G | NP_001265027.1:n.*1276A>G | |
| NM_199231.2:c.*1276A>G | NP_954701.1:n.*1276A>G | |
| XM_011514028.1:c.*1276A>G | XP_011512330.1:n.*1276A>G | |
| XM_011514029.1:c.*1276A>G | XP_011512331.1:n.*1276A>G | |
| XM_011514030.1:c.*1276A>G | XP_011512332.1:n.*1276A>G | |
| NM_000514.4:c.*1276A>G MANE Select | NP_000505.1:n.*1276A>G |