HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154863105C>A , CM000685.2:g.154863105C>A | GRCh38 |
NC_000023.10:g.154091380C>A , CM000685.1:g.154091380C>A | GRCh37 |
NC_000023.9:g.153744574C>A | NCBI36 |
NG_011403.1:g.164619G>T | |
NG_011403.2:g.164619G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6552G>T MANE Select | ENSP00000353393.4:p.Glu2184Asp | |
ENST00000644698.1:c.285G>T | ENSP00000495706.1:p.Glu95Asp | |
ENST00000330287.10:c.147G>T | ENSP00000327895.6:p.Glu49Asp | |
ENST00000360256.8:c.6552G>T | ENSP00000353393.4:p.Glu2184Asp | |
NM_000132.3:c.6552G>T | NP_000123.1:p.Glu2184Asp | |
NM_019863.2:c.147G>T | NP_063916.1:p.Glu49Asp | |
XM_011531126.1:c.6447G>T | XP_011529428.1:p.Glu2149Asp | |
NM_000132.4:c.6552G>T MANE Select | NP_000123.1:p.Glu2184Asp | |
NM_019863.3:c.147G>T | NP_063916.1:p.Glu49Asp |