HGVS | Genome Assembly |
---|---|
NC_000001.11:g.183239938A>C , CM000663.2:g.183239938A>C | GRCh38 |
NC_000001.10:g.183209073A>C , CM000663.1:g.183209073A>C | GRCh37 |
NC_000001.9:g.181475696A>C | NCBI36 |
NG_007079.2:g.58675A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264144.5:c.3070-102A>C MANE Select | ENSP00000264144.4:n.3070-102A>C | |
ENST00000264144.4:c.3070-102A>C | ENSP00000264144.4:n.3070-102A>C | |
ENST00000461729.1:n.438A>C | ||
ENST00000493293.5:c.3070-102A>C | ENSP00000432063.1:n.3070-102A>C | |
NM_005562.2:c.3070-102A>C | NP_005553.2:n.3070-102A>C | |
NM_018891.2:c.3070-102A>C | NP_061486.2:n.3070-102A>C | |
NM_005562.3:c.3070-102A>C MANE Select | NP_005553.2:n.3070-102A>C | |
NM_018891.3:c.3070-102A>C | NP_061486.2:n.3070-102A>C |