Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154987242T>G , CM000685.2:g.154987242T>G | GRCh38 |
| NC_000023.10:g.154215517T>G , CM000685.1:g.154215517T>G | GRCh37 |
| NC_000023.9:g.153868711T>G | NCBI36 |
| NG_011403.1:g.40482A>C | |
| NG_011403.2:g.40482A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.665A>C MANE Select | NP_000123.1:p.Asp222Ala |
| ENST00000360256.9:c.665A>C MANE Select | ENSP00000353393.4:p.Asp222Ala |
| NM_000132.3:c.665A>C | NP_000123.1:p.Asp222Ala |
| ENST00000360256.8:c.665A>C | ENSP00000353393.4:p.Asp222Ala |
| ENST00000423959.5:c.560A>C | ENSP00000409446.1:p.Asp187Ala |
| ENST00000647125.1:c.*451A>C | ENSP00000496062.1:n.*451A>C |
| XM_011531126.1:c.560A>C | XP_011529428.1:p.Asp187Ala |