HGVS | Genome Assembly |
---|---|
NC_000013.11:g.92670931A>G , CM000675.2:g.92670931A>G | GRCh38 |
NC_000013.10:g.93323184A>G , CM000675.1:g.93323184A>G | GRCh37 |
NC_000013.9:g.92121185A>G | NCBI36 |
NG_009370.1:g.1277250A>G | |
NG_009370.2:g.1277251A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000377067.9:c.1562-195351A>G MANE Select | ENSP00000366267.3:n.1562-195351A>G | |
ENST00000377067.8:c.1562-195351A>G | ENSP00000366267.3:n.1562-195351A>G | |
NM_004466.5:c.1562-195351A>G | NP_004457.1:n.1562-195351A>G | |
XR_931643.1:n.173+6587T>C | ||
XR_931644.1:n.173+6587T>C | ||
XM_017020435.2:c.1562-79033A>G | XP_016875924.1:n.1562-79033A>G | |
XR_931643.3:n.2210+6587T>C | ||
XR_931644.2:n.2210+6587T>C | ||
NM_004466.6:c.1562-195351A>G MANE Select | NP_004457.1:n.1562-195351A>G |