Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8732059C>G , CM000685.2:g.8732059C>G | GRCh38 |
| NC_000023.10:g.8700100C>G , CM000685.1:g.8700100C>G | GRCh37 |
| NC_000023.9:g.8660100C>G | NCBI36 |
| NG_007088.1:g.5128G>C | |
| NG_007088.2:g.5128G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.-23G>C MANE Select | ENSP00000262648.3:n.-23G>C | |
| ENST00000262648.7:c.-23G>C | ENSP00000262648.3:n.-23G>C | |
| ENST00000619786.1:c.-23G>C | ENSP00000478734.1:n.-23G>C | |
| NM_000216.2:c.-23G>C | NP_000207.2:n.-23G>C | |
| XM_005274501.3:c.-23G>C | XP_005274558.1:n.-23G>C | |
| NM_000216.3:c.-23G>C | NP_000207.2:n.-23G>C | |
| XM_005274501.4:c.-23G>C | XP_005274558.1:n.-23G>C | |
| NM_000216.4:c.-23G>C MANE Select | NP_000207.2:n.-23G>C |