Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161963258G= , CM000663.2:g.161963258G= | GRCh38 |
| NC_000001.10:g.161933048G= , CM000663.1:g.161933048G= | GRCh37 |
| NC_000001.9:g.160199672G= | NCBI36 |
| NG_029773.1:g.202015G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007348.4:c.*4604G= MANE Select | NP_031374.2:n.*4604G= |
| ENST00000367942.4:c.*4604G= MANE Select | ENSP00000356919.3:n.*4604G= |
| NM_007348.3:c.*4604G= | NP_031374.2:n.*4604G= |
| ENST00000367942.3:c.*4604G= | ENSP00000356919.3:n.*4604G= |
| ENST00000681738.1:c.*56+4548G= | ENSP00000505025.1:n.*56+4548G= |
| ENST00000681801.1:c.*56+4548G= | ENSP00000505998.1:n.*56+4548G= |
| XM_006711224.1:c.*4604G= | XP_006711287.1:n.*4604G= |
| XM_011509308.1:c.*4604G= | XP_011507610.1:n.*4604G= |
| XM_011509309.1:c.*4604G= | XP_011507611.1:n.*4604G= |