Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993077T>C , CM000685.2:g.154993077T>C | GRCh38 |
| NC_000023.10:g.154221352T>C , CM000685.1:g.154221352T>C | GRCh37 |
| NC_000023.9:g.153874546T>C | NCBI36 |
| NG_011403.1:g.34647A>G | |
| NG_011403.2:g.34647A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.460A>G MANE Select | NP_000123.1:p.Thr154Ala |
| ENST00000360256.9:c.460A>G MANE Select | ENSP00000353393.4:p.Thr154Ala |
| NM_000132.3:c.460A>G | NP_000123.1:p.Thr154Ala |
| ENST00000360256.8:c.460A>G | ENSP00000353393.4:p.Thr154Ala |
| ENST00000423959.5:c.355A>G | ENSP00000409446.1:p.Thr119Ala |
| ENST00000453950.1:c.442A>G | ENSP00000389153.1:p.Thr148Ala |
| ENST00000647125.1:c.*246A>G | ENSP00000496062.1:n.*246A>G |
| XM_011531126.1:c.355A>G | XP_011529428.1:p.Thr119Ala |