Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130567T>C , CM000676.2:g.50130567T>C | GRCh38 |
| NC_000014.8:g.50597285T>C , CM000676.1:g.50597285T>C | GRCh37 |
| NC_000014.7:g.49667035T>C | NCBI36 |
| NG_051073.1:g.106127A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3271A>G MANE Select | ENSP00000216373.5:p.Thr1091Ala | |
| ENST00000216373.9:c.3271A>G | ENSP00000216373.5:p.Thr1091Ala | |
| ENST00000543680.5:c.3172A>G | ENSP00000445328.1:p.Thr1058Ala | |
| NM_006939.2:c.3271A>G | NP_008870.2:p.Thr1091Ala | |
| XM_005268021.1:c.3091A>G | XP_005268078.1:p.Thr1031Ala | |
| XM_011537103.1:c.3232A>G | XP_011535405.1:p.Thr1078Ala | |
| NM_006939.3:c.3271A>G | NP_008870.2:p.Thr1091Ala | |
| NM_006939.4:c.3271A>G MANE Select | NP_008870.2:p.Thr1091Ala |