Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763536C>T , CM000679.2:g.74763536C>T | GRCh38 |
| NC_000017.10:g.72759675C>T , CM000679.1:g.72759675C>T | GRCh37 |
| NC_000017.9:g.70271270C>T | NCBI36 |
| NG_013022.1:g.19913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.757+16C>T MANE Select | ENSP00000262613.5:n.757+16C>T | |
| ENST00000262613.9:c.757+16C>T | ENSP00000262613.5:n.757+16C>T | |
| ENST00000413388.2:c.289+16C>T | ENSP00000464982.1:n.289+16C>T | |
| ENST00000578958.1:n.491+16C>T | ||
| ENST00000581356.1:c.93+16C>T | ||
| ENST00000583369.5:c.442-4611C>T | ENSP00000464321.1:n.442-4611C>T | |
| NM_004252.4:c.757+16C>T | NP_004243.1:n.757+16C>T | |
| XR_002958087.1:n.992C>T | ||
| NM_004252.5:c.757+16C>T MANE Select | NP_004243.1:n.757+16C>T |