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