HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43417395A>G , CM000683.2:g.43417395A>G | GRCh38 |
NG_052009.1:g.14738T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270162.8:c.1976+148T>C MANE Select | ENSP00000270162.6:n.1976+148T>C | |
ENST00000270162.6:c.1976+148T>C | ENSP00000270162.6:n.1976+148T>C | |
NM_173354.3:c.1976+148T>C | NP_775490.2:n.1976+148T>C | |
XM_011529474.1:c.1829+148T>C | XP_011527776.1:n.1829+148T>C | |
NM_173354.4:c.1976+148T>C | NP_775490.2:n.1976+148T>C | |
XM_011529474.2:c.1829+148T>C | XP_011527776.1:n.1829+148T>C | |
NM_173354.5:c.1976+148T>C MANE Select | NP_775490.2:n.1976+148T>C |