Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42335071G>C , CM000681.2:g.42335071G>C | GRCh38 |
| NC_000019.9:g.42839223G>C , CM000681.1:g.42839223G>C | GRCh37 |
| NC_000019.8:g.47531063G>C | NCBI36 |
| NG_033030.1:g.14463G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271938.2:c.595G>C MANE Select | NP_001258867.1:p.Gly199Arg |
| ENST00000251268.11:c.595G>C MANE Select | ENSP00000251268.5:p.Gly199Arg |
| NM_001271938.1:c.595G>C | NP_001258867.1:p.Gly199Arg |
| NM_001410.2:c.595G>C | NP_001401.2:p.Gly199Arg |
| NM_001410.3:c.595G>C | NP_001401.2:p.Gly199Arg |
| ENST00000251268.10:c.595G>C | ENSP00000251268.5:p.Gly199Arg |
| ENST00000334370.8:c.595G>C | ENSP00000334219.4:p.Gly199Arg |
| ENST00000378073.5:c.-6491G>C | ENSP00000367313.4:n.-6491G>C |