Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789229A>G , CM000681.2:g.18789229A>G | GRCh38 |
| NC_000019.9:g.18900038A>G , CM000681.1:g.18900038A>G | GRCh37 |
| NC_000019.8:g.18761038A>G | NCBI36 |
| NG_007070.1:g.7077T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.459T>C MANE Select | ENSP00000222271.2:p.Ala153= | |
| ENST00000222271.6:c.459T>C | ENSP00000222271.2:p.Ala153= | |
| ENST00000425807.1:c.391-337T>C | ENSP00000403792.1:n.391-337T>C | |
| ENST00000542601.6:c.360T>C | ENSP00000439156.2:p.Ala120= | |
| NM_000095.2:c.459T>C | NP_000086.2:p.Ala153= | |
| NM_000095.3:c.459T>C MANE Select | NP_000086.2:p.Ala153= |