Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29225557T>C , CM000664.2:g.29225557T>C | GRCh38 |
| NC_000002.11:g.29448423T>C , CM000664.1:g.29448423T>C | GRCh37 |
| NC_000002.10:g.29301927T>C | NCBI36 |
| NG_009445.1:g.701010A>G , LRG_488:g.701010A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.3076A>G MANE Select | NP_004295.2:p.Thr1026Ala |
| ENST00000389048.8:c.3076A>G MANE Select | ENSP00000373700.3:p.Thr1026Ala |
| NM_004304.4:c.3076A>G | NP_004295.2:p.Thr1026Ala |
| ENST00000389048.7:c.3076A>G | ENSP00000373700.3:p.Thr1026Ala |
| ENST00000431873.6:c.242A>G | |
| ENST00000618119.4:c.1945A>G | ENSP00000482733.1:p.Thr649Ala |
| XM_024452778.1:c.229A>G | XP_024308546.1:p.Thr77Ala |
| XR_001738688.2:n.3932A>G |