Linked Data
dbSNP Id:
rs141514310
gnomAD v2:
6-31093481-C-A
gnomAD v3:
6-31125704-C-A
gnomAD v4:
6-31125704-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125704C>A , CM000668.2:g.31125704C>A | GRCh38 |
| NC_000006.11:g.31093481C>A , CM000668.1:g.31093481C>A | GRCh37 |
| NC_000006.10:g.31201460C>A | NCBI36 |
| NG_021348.1:g.15874C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259881.10:c.-200C>A MANE Select | ENSP00000259881.9:n.-200C>A | |
| ENST00000259881.9:c.-200C>A | ENSP00000259881.9:n.-200C>A | |
| ENST00000479581.5:n.61+10813C>A | ||
| ENST00000548049.1:n.145C>A | ||
| ENST00000550838.1:n.59-35C>A | ||
| ENST00000552747.1:n.53+10813C>A | ||
| NM_014068.2:c.-200C>A | NP_054787.2:n.-200C>A | |
| NM_014068.3:c.-200C>A MANE Select | NP_054787.2:n.-200C>A |