Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028759C>G , CM000667.2:g.135028759C>G | GRCh38 |
| NC_000005.9:g.134364449C>G , CM000667.1:g.134364449C>G | GRCh37 |
| NC_000005.8:g.134392348C>G | NCBI36 |
| NG_012114.1:g.10516G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*20G>C MANE Select | ENSP00000265340.6:n.*20G>C | |
| ENST00000265340.11:c.*20G>C | ENSP00000265340.6:n.*20G>C | |
| ENST00000506438.5:c.*20G>C | ENSP00000427542.1:n.*20G>C | |
| NM_002653.4:c.*20G>C | NP_002644.4:n.*20G>C | |
| NM_002653.5:c.*20G>C MANE Select | NP_002644.4:n.*20G>C |