Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219250552C= , CM000664.2:g.219250552C= | GRCh38 |
| NC_000002.11:g.220115274C= , CM000664.1:g.220115274C= | GRCh37 |
| NC_000002.10:g.219823518C= | NCBI36 |
| NG_029913.1:g.8365G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248437.9:c.1147G= MANE Select | ENSP00000248437.4:p.Ala383= | |
| ENST00000248437.8:c.1147G= | ENSP00000248437.4:p.Ala383= | |
| ENST00000392088.6:c.1102G= | ENSP00000375938.2:p.Ala368= | |
| NM_001278552.1:c.1102G= | NP_001265481.1:p.Ala368= | |
| NM_006000.2:c.1147G= | NP_005991.1:p.Ala383= | |
| XM_005246832.1:c.1102G= | XP_005246889.1:p.Ala368= | |
| XM_017004824.1:c.688G= | XP_016860313.1:p.Ala230= | |
| NM_006000.3:c.1147G= MANE Select | NP_005991.1:p.Ala383= | |
| NM_001278552.2:c.1102G= | NP_001265481.1:p.Ala368= |