Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877701C= , CM000664.2:g.240877701C= | GRCh38 |
| NC_000002.11:g.241817118C= , CM000664.1:g.241817118C= | GRCh37 |
| NC_000002.10:g.241465791C= | NCBI36 |
| NG_008005.1:g.13957C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.942+69C= MANE Select | ENSP00000302620.3:n.942+69C= | |
| ENST00000307503.3:c.942+69C= | ENSP00000302620.3:n.942+69C= | |
| ENST00000470255.1:n.720+69C= | ||
| NM_000030.2:c.942+69C= | NP_000021.1:n.942+69C= | |
| NM_000030.3:c.942+69C= MANE Select | NP_000021.1:n.942+69C= |