HGVS | Genome Assembly |
---|---|
NC_000010.11:g.75538851A>C , CM000672.2:g.75538851A>C | GRCh38 |
NC_000010.10:g.77298609A>C , CM000672.1:g.77298609A>C | GRCh37 |
NC_000010.9:g.76968615A>C | NCBI36 |
NG_042180.1:g.112206A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000611255.5:c.131+100357A>C MANE Select | ENSP00000480240.1:n.131+100357A>C | |
ENST00000611255.4:c.131+100357A>C | ENSP00000480240.1:n.131+100357A>C | |
NM_001305581.1:c.131+100357A>C | NP_001292510.1:n.131+100357A>C | |
XM_011540256.1:c.131+100357A>C | XP_011538558.1:n.131+100357A>C | |
XM_011540257.1:c.131+100357A>C | XP_011538559.1:n.131+100357A>C | |
XM_011540258.1:c.131+100357A>C | XP_011538560.1:n.131+100357A>C | |
XR_945833.1:n.398+100357A>C | ||
NM_001305581.2:c.131+100357A>C MANE Select | NP_001292510.1:n.131+100357A>C |