Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058862G>A , CM000664.2:g.189058862G>A | GRCh38 |
| NC_000002.11:g.189923588G>A , CM000664.1:g.189923588G>A | GRCh37 |
| NC_000002.10:g.189631833G>A | NCBI36 |
| NG_011799.1:g.126018C>T | |
| NG_011799.2:g.126018C>T | |
| NG_011799.3:g.171440C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.2117C>T MANE Select | NP_000384.2:p.Pro706Leu |
| ENST00000374866.9:c.2117C>T MANE Select | ENSP00000364000.3:p.Pro706Leu |
| NM_000393.3:c.2117C>T | NP_000384.2:p.Pro706Leu |
| NM_000393.4:c.2117C>T | NP_000384.2:p.Pro706Leu |
| ENST00000374866.7:c.2117C>T | ENSP00000364000.3:p.Pro706Leu |
| ENST00000470524.2:n.223C>T | |
| ENST00000618828.1:c.956C>T | ENSP00000482184.1:p.Pro319Leu |
| XM_011510573.1:c.1979C>T | XP_011508875.1:p.Pro660Leu |
| XM_011510573.3:c.1979C>T | XP_011508875.1:p.Pro660Leu |