Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763116G>T , CM000679.2:g.74763116G>T | GRCh38 |
| NC_000017.10:g.72759255G>T , CM000679.1:g.72759255G>T | GRCh37 |
| NC_000017.9:g.70270850G>T | NCBI36 |
| NG_013022.1:g.19493G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004252.5:c.604-251G>T MANE Select | NP_004243.1:n.604-251G>T |
| ENST00000262613.10:c.604-251G>T MANE Select | ENSP00000262613.5:n.604-251G>T |
| NM_004252.4:c.604-251G>T | NP_004243.1:n.604-251G>T |
| ENST00000262613.9:c.604-251G>T | ENSP00000262613.5:n.604-251G>T |
| ENST00000413388.2:c.136-251G>T | ENSP00000464982.1:n.136-251G>T |
| ENST00000578958.1:n.87G>T | |
| ENST00000583369.5:c.442-5031G>T | ENSP00000464321.1:n.442-5031G>T |
| XR_002958087.1:n.823-251G>T |