Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44305012T>C , CM000667.2:g.44305012T>C | GRCh38 |
| NC_000005.9:g.44305114T>C , CM000667.1:g.44305114T>C | GRCh37 |
| NC_000005.8:g.44340871T>C | NCBI36 |
| NG_011446.1:g.88671A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004465.2:c.610A>G MANE Select | NP_004456.1:p.Met204Val |
| ENST00000264664.5:c.610A>G MANE Select | ENSP00000264664.4:p.Met204Val |
| NM_004465.1:c.610A>G | NP_004456.1:p.Met204Val |
| ENST00000264664.4:c.610A>G | ENSP00000264664.4:p.Met204Val |
| XM_005248264.2:c.610A>G | XP_005248321.1:p.Met204Val |
| XM_005248264.4:c.610A>G | XP_005248321.1:p.Met204Val |