Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186166812T>C , CM000663.2:g.186166812T>C | GRCh38 |
| NC_000001.10:g.186135944T>C , CM000663.1:g.186135944T>C | GRCh37 |
| NC_000001.9:g.184402567T>C | NCBI36 |
| NG_011841.1:g.437262T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15444T>C MANE Select | ENSP00000271588.4:p.Ile5148= | |
| ENST00000271588.8:c.15444T>C | ENSP00000271588.4:p.Ile5148= | |
| ENST00000475585.1:n.163-4525T>C | ||
| NM_031935.2:c.15444T>C | NP_114141.2:p.Ile5148= | |
| XM_011510037.1:c.15159T>C | XP_011508339.1:p.Ile5053= | |
| XM_011510038.1:c.15444T>C | XP_011508340.1:p.Ile5148= | |
| XM_011510038.3:c.15444T>C | XP_011508340.1:p.Ile5148= | |
| XM_017002437.1:c.13467T>C | XP_016857926.1:p.Ile4489= | |
| NM_031935.3:c.15444T>C MANE Select | NP_114141.2:p.Ile5148= |