Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149944672A>G , CM000667.2:g.149944672A>G | GRCh38 |
| NC_000005.9:g.149324235A>G , CM000667.1:g.149324235A>G | GRCh37 |
| NC_000005.8:g.149304428A>G | NCBI36 |
| NG_009102.1:g.5122T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000440.3:c.2T>C MANE Select | NP_000431.2:p.Met1Thr |
| ENST00000255266.10:c.2T>C MANE Select | ENSP00000255266.5:p.Met1Thr |
| NM_000440.2:c.2T>C | NP_000431.2:p.Met1Thr |
| ENST00000255266.9:c.2T>C | ENSP00000255266.5:p.Met1Thr |
| ENST00000508173.5:n.122T>C | |
| ENST00000613228.1:c.2T>C | ENSP00000478060.1:p.Met1Thr |
| ENST00000617647.4:c.2T>C | ENSP00000482774.1:p.Met1Thr |
| XM_011537648.1:c.2T>C | XP_011535950.1:p.Met1Thr |
| XM_011537649.1:c.-72-9954T>C | XP_011535951.1:n.-72-9954T>C |
| XM_017009572.2:c.2T>C | XP_016865061.1:p.Met1Thr |