Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966433C>G , CM000685.2:g.154966433C>G | GRCh38 |
| NC_000023.10:g.154194708C>G , CM000685.1:g.154194708C>G | GRCh37 |
| NC_000023.9:g.153847902C>G | NCBI36 |
| NG_011403.1:g.61291G>C | |
| NG_011403.2:g.61291G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.1264G>C MANE Select | NP_000123.1:p.Asp422His |
| ENST00000360256.9:c.1264G>C MANE Select | ENSP00000353393.4:p.Asp422His |
| NM_000132.3:c.1264G>C | NP_000123.1:p.Asp422His |
| ENST00000360256.8:c.1264G>C | ENSP00000353393.4:p.Asp422His |
| ENST00000483822.2:n.84G>C | |
| ENST00000647125.1:c.*1140G>C | ENSP00000496062.1:n.*1140G>C |
| XM_011531126.1:c.1159G>C | XP_011529428.1:p.Asp387His |