HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154837707G>A , CM000685.2:g.154837707G>A | GRCh38 |
NC_000023.10:g.154065982G>A , CM000685.1:g.154065982G>A | GRCh37 |
NC_000023.9:g.153719176G>A | NCBI36 |
NG_011403.1:g.190017C>T | |
NG_033065.1:g.1956C>T | |
NG_011403.2:g.190017C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6946C>T MANE Select | ENSP00000353393.4:p.Leu2316= | |
ENST00000644698.1:c.679C>T | ENSP00000495706.1:p.Leu227= | |
ENST00000330287.10:c.541C>T | ENSP00000327895.6:p.Leu181= | |
ENST00000360256.8:c.6946C>T | ENSP00000353393.4:p.Leu2316= | |
NM_000132.3:c.6946C>T | NP_000123.1:p.Leu2316= | |
NM_019863.2:c.541C>T | NP_063916.1:p.Leu181= | |
XM_011531126.1:c.6841C>T | XP_011529428.1:p.Leu2281= | |
NM_000132.4:c.6946C>T MANE Select | NP_000123.1:p.Leu2316= | |
NM_019863.3:c.541C>T | NP_063916.1:p.Leu181= |