Linked Data
dbSNP Id:
rs782313397
ExAC:
X:154157004 T / C
gnomAD v2:
X-154157004-T-C
gnomAD v4:
X-154928729-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928729T>C , CM000685.2:g.154928729T>C | GRCh38 |
| NC_000023.10:g.154157004T>C , CM000685.1:g.154157004T>C | GRCh37 |
| NC_000023.9:g.153810198T>C | NCBI36 |
| NG_011403.1:g.98995A>G | |
| NG_011403.2:g.98995A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5061A>G MANE Select | ENSP00000353393.4:p.Ile1687Met | |
| ENST00000360256.8:c.5061A>G | ENSP00000353393.4:p.Ile1687Met | |
| NM_000132.3:c.5061A>G | NP_000123.1:p.Ile1687Met | |
| XM_011531126.1:c.4956A>G | XP_011529428.1:p.Ile1652Met | |
| NM_000132.4:c.5061A>G MANE Select | NP_000123.1:p.Ile1687Met |