Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421293A>T , CM000671.2:g.101421293A>T | GRCh38 |
| NC_000009.11:g.104183575A>T , CM000671.1:g.104183575A>T | GRCh37 |
| NC_000009.10:g.103223396A>T | NCBI36 |
| NG_012387.1:g.19488T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000035.4:c.*516T>A MANE Select | NP_000026.2:n.*516T>A |
| ENST00000647789.2:c.*516T>A MANE Select | ENSP00000497767.1:n.*516T>A |
| NM_000035.3:c.*516T>A | NP_000026.2:n.*516T>A |
| ENST00000374855.8:c.*516T>A | ENSP00000363988.4:n.*516T>A |