gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186095397A>C , CM000663.2:g.186095397A>C | GRCh38 |
| NC_000001.10:g.186064529A>C , CM000663.1:g.186064529A>C | GRCh37 |
| NC_000001.9:g.184331152A>C | NCBI36 |
| NG_011841.1:g.365847A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.10449A>C MANE Select | ENSP00000271588.4:p.Thr3483= | |
| ENST00000271588.8:c.10449A>C | ENSP00000271588.4:p.Thr3483= | |
| NM_031935.2:c.10449A>C | NP_114141.2:p.Thr3483= | |
| XM_011510037.1:c.10164A>C | XP_011508339.1:p.Thr3388= | |
| XM_011510038.1:c.10449A>C | XP_011508340.1:p.Thr3483= | |
| XM_011510039.1:c.10449A>C | XP_011508341.1:p.Thr3483= | |
| XM_011510038.3:c.10449A>C | XP_011508340.1:p.Thr3483= | |
| XM_017002437.1:c.8472A>C | XP_016857926.1:p.Thr2824= | |
| XM_024450118.1:c.*97A>C | XP_024305886.1:n.*97A>C | |
| NM_031935.3:c.10449A>C MANE Select | NP_114141.2:p.Thr3483= |