Linked Data
dbSNP Id:
rs846111
ExAC:
1:6279370 G / C
gnomAD v2:
1-6279370-G-C
gnomAD v3:
1-6219310-G-C
gnomAD v4:
1-6219310-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6219310G>C , CM000663.2:g.6219310G>C | GRCh38 |
| NC_000001.10:g.6279370G>C , CM000663.1:g.6279370G>C | GRCh37 |
| NC_000001.9:g.6201957G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377939.5:c.1808G>C MANE Select | ENSP00000367173.4:p.Gly603Ala | |
| ENST00000377939.4:c.1808G>C | ENSP00000367173.4:p.Gly603Ala | |
| ENST00000483336.1:n.440G>C | ||
| ENST00000496676.5:n.1525G>C | ||
| NM_207396.2:c.1808G>C | NP_997279.2:p.Gly603Ala | |
| XM_011541439.1:c.1952G>C | XP_011539741.1:p.Gly651Ala | |
| XR_946651.1:n.2301G>C | ||
| XR_946652.1:n.2287G>C | ||
| XM_011541439.3:c.1952G>C | XP_011539741.1:p.Gly651Ala | |
| XM_017001259.2:c.1874G>C | XP_016856748.1:p.Gly625Ala | |
| XR_001737158.2:n.2386G>C | ||
| XR_001737159.2:n.2224G>C | ||
| XR_001737162.2:n.2320G>C | ||
| XR_001737164.2:n.2862G>C | ||
| XR_946651.3:n.2158G>C | ||
| XR_946652.3:n.2144G>C | ||
| NM_207396.3:c.1808G>C MANE Select | NP_997279.2:p.Gly603Ala |