Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160047246A>T , CM000668.2:g.160047246A>T | GRCh38 |
| NC_000006.11:g.160468278A>T , CM000668.1:g.160468278A>T | GRCh37 |
| NC_000006.10:g.160388268A>T | NCBI36 |
| NG_011785.3:g.83148A>T | |
| NG_011785.4:g.83148A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000876.4:c.2139A>T MANE Select | NP_000867.3:p.Thr713= |
| ENST00000356956.6:c.2139A>T MANE Select | ENSP00000349437.1:p.Thr713= |
| NM_000876.2:c.2139A>T | NP_000867.2:p.Thr713= |
| NM_000876.3:c.2139A>T | NP_000867.2:p.Thr713= |
| ENST00000356956.5:c.2139A>T | ENSP00000349437.1:p.Thr713= |
| ENST00000676781.1:c.*247A>T | ENSP00000504419.1:n.*247A>T |
| ENST00000677704.1:c.2139A>T | ENSP00000503314.1:p.Thr713= |
| XR_942419.1:n.2154A>T |