HGVS | Genome Assembly |
---|---|
NC_000010.11:g.46036353G>A , CM000672.2:g.46036353G>A | GRCh38 |
NC_000010.10:g.51559469C>T , CM000672.1:g.51559469C>T | GRCh37 |
NC_000010.9:g.51229475C>T | NCBI36 |
NG_011551.1:g.14917C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000582163.3:c.215+2613C>T MANE Select | ENSP00000463092.1:n.215+2613C>T | |
ENST00000663171.1:c.215+2613C>T | ENSP00000499419.1:n.215+2613C>T | |
ENST00000581478.5:c.110-2802C>T | ENSP00000462641.1:n.110-2802C>T | |
ENST00000582163.2:c.215+2613C>T | ENSP00000463092.1:n.215+2613C>T | |
NM_002443.3:c.215+2613C>T | NP_002434.1:n.215+2613C>T | |
NM_138634.2:c.110-2802C>T | NP_619540.1:n.110-2802C>T | |
XR_945923.1:n.1284G>A | ||
XR_945923.3:n.1284G>A | ||
NM_002443.4:c.215+2613C>T MANE Select | NP_002434.1:n.215+2613C>T | |
NM_138634.3:c.110-2802C>T | NP_619540.1:n.110-2802C>T |