HGVS | Genome Assembly |
---|---|
NC_000004.12:g.55100286C>G , CM000666.2:g.55100286C>G | GRCh38 |
NC_000004.11:g.55966453C>G , CM000666.1:g.55966453C>G | GRCh37 |
NC_000004.10:g.55661210C>G | NCBI36 |
NG_012004.1:g.30310G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263923.5:c.2267-1483G>C MANE Select | ENSP00000263923.4:n.2267-1483G>C | |
ENST00000647068.1:n.2280-1483G>C | ||
ENST00000263923.4:c.2267-1483G>C | ENSP00000263923.4:n.2267-1483G>C | |
NM_002253.2:c.2267-1483G>C | NP_002244.1:n.2267-1483G>C | |
NM_002253.3:c.2267-1483G>C | NP_002244.1:n.2267-1483G>C | |
NM_002253.4:c.2267-1483G>C MANE Select | NP_002244.1:n.2267-1483G>C |