Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997006C>G , CM000685.2:g.154997006C>G | GRCh38 |
| NC_000023.10:g.154225281C>G , CM000685.1:g.154225281C>G | GRCh37 |
| NC_000023.9:g.153878475C>G | NCBI36 |
| NG_011403.1:g.30718G>C | |
| NG_011403.2:g.30718G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.355G>C MANE Select | ENSP00000353393.4:p.Ala119Pro | |
| ENST00000647125.1:c.*141G>C | ENSP00000496062.1:n.*141G>C | |
| ENST00000360256.8:c.355G>C | ENSP00000353393.4:p.Ala119Pro | |
| ENST00000423959.5:c.250G>C | ENSP00000409446.1:p.Ala84Pro | |
| ENST00000453950.1:c.337G>C | ENSP00000389153.1:p.Ala113Pro | |
| NM_000132.3:c.355G>C | NP_000123.1:p.Ala119Pro | |
| XM_011531126.1:c.250G>C | XP_011529428.1:p.Ala84Pro | |
| NM_000132.4:c.355G>C MANE Select | NP_000123.1:p.Ala119Pro |