HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63944670C>G , CM000679.2:g.63944670C>G | GRCh38 |
NC_000017.10:g.62022030C>G , CM000679.1:g.62022030C>G | GRCh37 |
NC_000017.9:g.59375762C>G | NCBI36 |
NG_011699.1:g.33249G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000435607.3:c.3912+3G>C MANE Select | ENSP00000396320.1:n.3912+3G>C | |
ENST00000578147.5:c.3915G>C | ENSP00000463963.1:p.Met1305Ile | |
NM_000334.4:c.3912+3G>C MANE Select | NP_000325.4:n.3912+3G>C | |
XM_005257566.3:c.3912+3G>C | XP_005257623.1:n.3912+3G>C |