Linked Data
dbSNP Id:
rs11672517
gnomAD v2:
19-57678194-G-A
gnomAD v3:
19-57166826-G-A
gnomAD v4:
19-57166826-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57166826G>A , CM000681.2:g.57166826G>A | GRCh38 |
| NC_000019.9:g.57678194G>A , CM000681.1:g.57678194G>A | GRCh37 |
| NC_000019.8:g.62370006G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554048.3:c.25+593C>T MANE Select | ENSP00000452398.1:n.25+593C>T | |
| ENST00000554048.2:c.25+593C>T | ENSP00000452398.1:n.25+593C>T | |
| NM_001012729.1:c.25+593C>T | NP_001012747.1:n.25+593C>T | |
| NM_001012729.2:c.25+593C>T MANE Select | NP_001012747.1:n.25+593C>T |