HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7933986C>G , CM000681.2:g.7933986C>G | GRCh38 |
NC_000019.9:g.7998871C>G , CM000681.1:g.7998871C>G | GRCh37 |
NC_000019.8:g.7904871C>G | NCBI36 |
NG_051180.1:g.14838G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270538.8:c.561G>C MANE Select | ENSP00000270538.2:p.Lys187Asn | |
ENST00000270538.7:c.561G>C | ENSP00000270538.2:p.Lys187Asn | |
ENST00000595831.5:c.548G>C | ||
ENST00000595876.5:c.*249G>C | ENSP00000471596.1:n.*249G>C | |
ENST00000597926.1:c.465G>C | ENSP00000469389.1:p.Lys155Asn | |
ENST00000600748.5:n.546G>C | ||
NM_006351.3:c.561G>C | NP_006342.2:p.Lys187Asn | |
NM_006351.4:c.561G>C MANE Select | NP_006342.2:p.Lys187Asn |