Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74713439C>G , CM000678.2:g.74713439C>G | GRCh38 |
| NC_000016.9:g.74747337C>G , CM000678.1:g.74747337C>G | GRCh37 |
| NC_000016.8:g.73304838C>G | NCBI36 |
| NG_017070.1:g.66393G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.*751G>C MANE Select | ENSP00000219368.3:n.*751G>C | |
| ENST00000219368.7:c.*751G>C | ENSP00000219368.3:n.*751G>C | |
| ENST00000562145.1:n.1591G>C | ||
| NM_024306.4:c.*751G>C | NP_077282.3:n.*751G>C | |
| XM_011523319.1:c.*751G>C | XP_011521621.1:n.*751G>C | |
| XM_011523319.2:c.*751G>C | XP_011521621.1:n.*751G>C | |
| NM_024306.5:c.*751G>C MANE Select | NP_077282.3:n.*751G>C |