Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123366180T>G , CM000668.2:g.123366180T>G | GRCh38 |
| NC_000006.11:g.123687325T>G , CM000668.1:g.123687325T>G | GRCh37 |
| NC_000006.10:g.123729024T>G | NCBI36 |
| NG_030438.1:g.275914A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1276A>C MANE Select | NP_006064.2:p.Thr426Pro |
| ENST00000334268.9:c.1276A>C MANE Select | ENSP00000333984.5:p.Thr426Pro |
| NM_001251987.1:c.1279A>C | NP_001238916.1:p.Thr427Pro |
| NM_001251987.2:c.1279A>C | NP_001238916.1:p.Thr427Pro |
| NM_006073.3:c.1276A>C | NP_006064.2:p.Thr426Pro |
| ENST00000334268.8:c.1276A>C | ENSP00000333984.5:p.Thr426Pro |
| ENST00000662930.1:c.1279A>C | ENSP00000499585.1:p.Thr427Pro |
| XM_011535382.1:c.1273A>C | XP_011533684.1:p.Thr425Pro |