Linked Data
dbSNP Id:
rs1033208894
gnomAD v2:
X-48385455-C-T
gnomAD v3:
X-48527067-C-T
gnomAD v4:
X-48527067-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527067C>T , CM000685.2:g.48527067C>T | GRCh38 |
| NC_000023.10:g.48385455C>T , CM000685.1:g.48385455C>T | GRCh37 |
| NC_000023.9:g.48270399C>T | NCBI36 |
| NG_007452.1:g.10292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.338+42C>T MANE Select | ENSP00000417052.1:n.338+42C>T | |
| ENST00000651615.1:c.338+42C>T | ENSP00000498524.1:n.338+42C>T | |
| ENST00000276096.10:n.296+42C>T | ||
| ENST00000414061.1:c.338+42C>T | ENSP00000405832.1:n.338+42C>T | |
| ENST00000446158.5:c.338+42C>T | ENSP00000390031.1:n.338+42C>T | |
| ENST00000466461.1:n.177+42C>T | ||
| ENST00000495186.5:c.338+42C>T | ENSP00000417052.1:n.338+42C>T | |
| ENST00000498425.1:n.459+42C>T | ||
| NM_006579.2:c.338+42C>T | NP_006570.1:n.338+42C>T | |
| NM_006579.3:c.338+42C>T MANE Select | NP_006570.1:n.338+42C>T |