Linked Data
dbSNP Id:
rs1262785620
gnomAD v2:
14-50647430-G-A
gnomAD v3:
14-50180712-G-A
gnomAD v4:
14-50180712-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50180712G>A , CM000676.2:g.50180712G>A | GRCh38 |
| NC_000014.8:g.50647430G>A , CM000676.1:g.50647430G>A | GRCh37 |
| NC_000014.7:g.49717180G>A | NCBI36 |
| NG_051073.1:g.55982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.859-30C>T MANE Select | ENSP00000216373.5:n.859-30C>T | |
| ENST00000216373.9:c.859-30C>T | ENSP00000216373.5:n.859-30C>T | |
| ENST00000543680.5:c.859-30C>T | ENSP00000445328.1:n.859-30C>T | |
| NM_006939.2:c.859-30C>T | NP_008870.2:n.859-30C>T | |
| XM_005268021.1:c.679-30C>T | XP_005268078.1:n.679-30C>T | |
| XM_011537103.1:c.820-30C>T | XP_011535405.1:n.820-30C>T | |
| XM_011537104.1:c.859-30C>T | XP_011535406.1:n.859-30C>T | |
| XR_943842.1:n.954-3075G>A | ||
| XR_943843.1:n.954-3075G>A | ||
| NM_006939.3:c.859-30C>T | NP_008870.2:n.859-30C>T | |
| NM_006939.4:c.859-30C>T MANE Select | NP_008870.2:n.859-30C>T |