HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154837685C>A , CM000685.2:g.154837685C>A | GRCh38 |
NC_000023.10:g.154065960C>A , CM000685.1:g.154065960C>A | GRCh37 |
NC_000023.9:g.153719154C>A | NCBI36 |
NG_011403.1:g.190039G>T | |
NG_033065.1:g.1978G>T | |
NG_011403.2:g.190039G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6968G>T MANE Select | ENSP00000353393.4:p.Arg2323Leu | |
ENST00000644698.1:c.701G>T | ENSP00000495706.1:p.Arg234Leu | |
ENST00000330287.10:c.563G>T | ENSP00000327895.6:p.Arg188Leu | |
ENST00000360256.8:c.6968G>T | ENSP00000353393.4:p.Arg2323Leu | |
NM_000132.3:c.6968G>T | NP_000123.1:p.Arg2323Leu | |
NM_019863.2:c.563G>T | NP_063916.1:p.Arg188Leu | |
XM_011531126.1:c.6863G>T | XP_011529428.1:p.Arg2288Leu | |
NM_000132.4:c.6968G>T MANE Select | NP_000123.1:p.Arg2323Leu | |
NM_019863.3:c.563G>T | NP_063916.1:p.Arg188Leu |