Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128954182T>G , CM000669.2:g.128954182T>G | GRCh38 |
| NC_000007.13:g.128594236T>G , CM000669.1:g.128594236T>G | GRCh37 |
| NC_000007.12:g.128381472T>G | NCBI36 |
| NG_023428.1:g.105992A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265388.9:c.*1235A>C | ENSP00000265388.5:n.*1235A>C | |
| ENST00000627585.2:c.*1235A>C | ENSP00000487231.1:n.*1235A>C | |
| NM_001191028.2:c.*1235A>C | NP_001177957.2:n.*1235A>C | |
| NM_012470.3:c.*1235A>C | NP_036602.1:n.*1235A>C | |
| NR_034053.2:n.4571A>C |