Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154993134C>A , CM000685.2:g.154993134C>A | GRCh38 |
| NC_000023.10:g.154221409C>A , CM000685.1:g.154221409C>A | GRCh37 |
| NC_000023.9:g.153874603C>A | NCBI36 |
| NG_011403.1:g.34590G>T | |
| NG_011403.2:g.34590G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.403G>T MANE Select | NP_000123.1:p.Asp135Tyr |
| ENST00000360256.9:c.403G>T MANE Select | ENSP00000353393.4:p.Asp135Tyr |
| NM_000132.3:c.403G>T | NP_000123.1:p.Asp135Tyr |
| ENST00000360256.8:c.403G>T | ENSP00000353393.4:p.Asp135Tyr |
| ENST00000423959.5:c.298G>T | ENSP00000409446.1:p.Asp100Tyr |
| ENST00000453950.1:c.385G>T | ENSP00000389153.1:p.Asp129Tyr |
| ENST00000647125.1:c.*189G>T | ENSP00000496062.1:n.*189G>T |
| XM_011531126.1:c.298G>T | XP_011529428.1:p.Asp100Tyr |