Linked Data
dbSNP Id:
rs12278912
gnomAD v2:
11-124612159-G-A
gnomAD v3:
11-124742263-G-A
gnomAD v4:
11-124742263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124742263G>A , CM000673.2:g.124742263G>A | GRCh38 |
| NC_000011.9:g.124612159G>A , CM000673.1:g.124612159G>A | GRCh37 |
| NC_000011.8:g.124117369G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284292.11:c.15+2164G>A MANE Select | ENSP00000284292.5:n.15+2164G>A | |
| ENST00000284292.10:c.15+2164G>A | ENSP00000284292.5:n.15+2164G>A | |
| ENST00000412681.2:c.15+2164G>A | ENSP00000399591.1:n.15+2164G>A | |
| NM_001126181.1:c.15+2164G>A | NP_001119653.1:n.15+2164G>A | |
| NM_006176.2:c.15+2164G>A | NP_006167.1:n.15+2164G>A | |
| XR_429013.2:n.2320C>T | ||
| XR_948129.1:n.1808C>T | ||
| XR_948130.1:n.1341C>T | ||
| XR_948131.1:n.2137C>T | ||
| NM_006176.3:c.15+2164G>A MANE Select | NP_006167.1:n.15+2164G>A | |
| NM_001126181.2:c.15+2164G>A | NP_001119653.1:n.15+2164G>A |