HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12887090C>G , CM000681.2:g.12887090C>G | GRCh38 |
NC_000019.9:g.12997904C>G , CM000681.1:g.12997904C>G | GRCh37 |
NC_000019.8:g.12858904C>G | NCBI36 |
NG_009292.1:g.931C>G | |
NG_013087.1:g.5114G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264834.6:c.51G>C MANE Select | ENSP00000264834.3:p.Leu17= | |
ENST00000264834.4:c.51G>C | ENSP00000264834.3:p.Leu17= | |
NM_006563.3:c.51G>C | NP_006554.1:p.Leu17= | |
XM_011527642.1:c.-153G>C | XP_011525944.1:n.-153G>C | |
NM_006563.4:c.51G>C | NP_006554.1:p.Leu17= | |
XM_011527642.2:c.-153G>C | XP_011525944.1:n.-153G>C | |
NM_006563.5:c.51G>C MANE Select | NP_006554.1:p.Leu17= |