HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29328388T>G , CM000664.2:g.29328388T>G | GRCh38 |
NC_000002.11:g.29551254T>G , CM000664.1:g.29551254T>G | GRCh37 |
NC_000002.10:g.29404758T>G | NCBI36 |
NG_009445.1:g.598179A>C , LRG_488:g.598179A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389048.8:c.1376A>C MANE Select | ENSP00000373700.3:p.Gln459Pro | |
ENST00000389048.7:c.1376A>C | ENSP00000373700.3:p.Gln459Pro | |
ENST00000618119.4:c.245A>C | ENSP00000482733.1:p.Gln82Pro | |
NM_004304.4:c.1376A>C | NP_004295.2:p.Gln459Pro | |
XR_939920.1:n.696T>G | ||
XR_939921.1:n.680+5860T>G | ||
XR_001738688.2:n.2306A>C | ||
XR_939920.2:n.586T>G | ||
XR_939921.2:n.576+5860T>G | ||
NM_004304.5:c.1376A>C MANE Select | NP_004295.2:p.Gln459Pro |