Linked Data
dbSNP Id:
rs1008654250
gnomAD v2:
12-6145319-C-T
gnomAD v3:
12-6036153-C-T
gnomAD v4:
12-6036153-C-T
COSMIC:
COSN19068928
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6036153C>T , CM000674.2:g.6036153C>T | GRCh38 |
| NC_000012.11:g.6145319C>T , CM000674.1:g.6145319C>T | GRCh37 |
| NC_000012.10:g.6015580C>T | NCBI36 |
| NG_009072.1:g.93518G>A | |
| NG_009072.2:g.93518G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2546+235G>A MANE Select | ENSP00000261405.5:n.2546+235G>A | |
| ENST00000261405.9:c.2546+235G>A | ENSP00000261405.5:n.2546+235G>A | |
| ENST00000538635.5:n.421-42219G>A | ||
| NM_000552.3:c.2546+235G>A | NP_000543.2:n.2546+235G>A | |
| NM_000552.4:c.2546+235G>A | NP_000543.2:n.2546+235G>A | |
| NM_000552.5:c.2546+235G>A MANE Select | NP_000543.3:n.2546+235G>A |