HGVS | Genome Assembly |
---|---|
NC_000009.12:g.2717698C>A , CM000671.2:g.2717698C>A | GRCh38 |
NC_000009.11:g.2717698C>A , CM000671.1:g.2717698C>A | GRCh37 |
NC_000009.10:g.2707698C>A | NCBI36 |
NG_012181.1:g.5173C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382082.4:c.-42C>A MANE Select | ENSP00000371514.3:n.-42C>A | |
ENST00000382082.3:c.-42C>A | ENSP00000371514.3:n.-42C>A | |
NM_133497.3:c.-42C>A | NP_598004.1:n.-42C>A | |
XR_929202.1:n.460C>A | ||
XR_929203.1:n.460C>A | ||
NM_133497.4:c.-42C>A MANE Select | NP_598004.1:n.-42C>A |