Linked Data
dbSNP Id:
rs17121510
gnomAD v2:
11-117876155-A-G
gnomAD v3:
11-118005440-A-G
gnomAD v4:
11-118005440-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118005440A>G , CM000673.2:g.118005440A>G | GRCh38 |
| NC_000011.9:g.117876155A>G , CM000673.1:g.117876155A>G | GRCh37 |
| NC_000011.8:g.117381365A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689828.1:c.*970T>C MANE Select | ENSP00000509259.1:n.*970T>C | |
| ENST00000636151.1:c.*1014T>C | ENSP00000490666.1:n.*1014T>C | |
| XM_024448283.1:c.*970T>C | XP_024304051.1:n.*970T>C | |
| XR_002957112.1:n.1624T>C | ||
| XR_002957113.1:n.1140T>C | ||
| NM_001394164.1:c.*970T>C | NP_001381093.1:n.*970T>C | |
| NM_001394165.1:c.*970T>C MANE Select | NP_001381094.1:n.*970T>C | |
| NM_001394166.1:c.*970T>C | NP_001381095.1:n.*970T>C |