Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63948751A>G , CM000679.2:g.63948751A>G | GRCh38 |
| NC_000017.10:g.62026111A>G , CM000679.1:g.62026111A>G | GRCh37 |
| NC_000017.9:g.59379843A>G | NCBI36 |
| NG_011699.1:g.29168T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000334.4:c.3004T>C MANE Select | NP_000325.4:p.Trp1002Arg |
| ENST00000435607.3:c.3004T>C MANE Select | ENSP00000396320.1:p.Trp1002Arg |
| ENST00000578147.5:c.3004T>C | ENSP00000463963.1:p.Trp1002Arg |
| ENST00000584310.1:n.327T>C | |
| XM_005257566.3:c.3004T>C | XP_005257623.1:p.Trp1002Arg |