HGVS | Genome Assembly |
---|---|
NC_000004.12:g.87612558A>C , CM000666.2:g.87612558A>C | GRCh38 |
NC_000004.11:g.88533710A>C , CM000666.1:g.88533710A>C | GRCh37 |
NC_000004.10:g.88752734A>C | NCBI36 |
NG_011595.1:g.9030A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651931.1:c.372A>C MANE Select | ENSP00000498766.1:p.Ile124= | |
ENST00000282478.7:c.372A>C | ENSP00000282478.7:p.Ile124= | |
ENST00000399271.5:c.372A>C | ENSP00000382213.1:p.Ile124= | |
NM_014208.3:c.372A>C MANE Select | NP_055023.2:p.Ile124= |