Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585633T= , CM000665.2:g.98585633T= | GRCh38 |
| NC_000003.11:g.98304477T= , CM000665.1:g.98304477T= | GRCh37 |
| NC_000003.10:g.99787167T= | NCBI36 |
| NG_015994.1:g.12979A= | |
| NG_015994.2:g.12979A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000097.7:c.980A= MANE Select | NP_000088.3:p.His327= |
| ENST00000647941.2:c.980A= MANE Select | ENSP00000497326.1:p.His327= |
| NM_000097.5:c.980A= | NP_000088.3:p.His327= |
| ENST00000264193.2:c.980A= | ENSP00000264193.2:p.His327= |
| ENST00000510489.1:n.230A= | |
| XM_005247125.3:c.980A= | XP_005247182.1:p.His327= |
| XM_005247125.4:c.980A= | XP_005247182.1:p.His327= |
| XR_001740025.2:n.1151A= | |
| XR_001740026.1:n.1715A= | |
| XR_001740027.1:n.1255A= | |
| XR_001740028.1:n.1221A= |