HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21002095A>C , CM000664.2:g.21002095A>C | GRCh38 |
NC_000002.11:g.21224967A>C , CM000664.1:g.21224967A>C | GRCh37 |
NC_000002.10:g.21078472A>C | NCBI36 |
NG_011793.1:g.46979T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233242.5:c.13327T>G MANE Select | ENSP00000233242.1:p.Phe4443Val | |
ENST00000616098.4:c.13325T>G | ENSP00000477990.1:n.13325T>G | |
NM_000384.2:c.13327T>G | NP_000375.2:p.Phe4443Val | |
XM_011532809.1:c.5870-2822T>G | XP_011531111.1:n.5870-2822T>G | |
NM_000384.3:c.13327T>G MANE Select | NP_000375.3:p.Phe4443Val |