Linked Data
dbSNP Id:
rs1357706367
gnomAD v2:
X-107328116-T-C
gnomAD v3:
X-108084886-T-C
gnomAD v4:
X-108084886-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084886T>C , CM000685.2:g.108084886T>C | GRCh38 |
| NC_000023.10:g.107328116T>C , CM000685.1:g.107328116T>C | GRCh37 |
| NC_000023.9:g.107214772T>C | NCBI36 |
| NG_012521.1:g.11733A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*88A>G MANE Select | ENSP00000217958.3:n.*88A>G | |
| ENST00000217958.7:c.*88A>G | ENSP00000217958.3:n.*88A>G | |
| ENST00000340200.5:c.670A>G | ENSP00000345963.5:n.670A>G | |
| ENST00000361815.9:c.*234A>G | ENSP00000354906.5:n.*234A>G | |
| ENST00000372295.5:c.*88A>G | ENSP00000361369.1:n.*88A>G | |
| ENST00000372296.5:c.*234A>G | ENSP00000361370.1:n.*234A>G | |
| NM_002814.3:c.*88A>G | NP_002805.1:n.*88A>G | |
| NM_170750.2:c.*234A>G | NP_736606.1:n.*234A>G | |
| NM_002814.4:c.*88A>G MANE Select | NP_002805.1:n.*88A>G | |
| NM_170750.3:c.*234A>G | NP_736606.1:n.*234A>G |