HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814226G>A , CM000671.2:g.129814226G>A | GRCh38 |
NC_000009.11:g.132576505G>A , CM000671.1:g.132576505G>A | GRCh37 |
NC_000009.10:g.131616326G>A | NCBI36 |
NG_008049.1:g.14937C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.749-4C>T MANE Select | ENSP00000345719.4:n.749-4C>T | |
ENST00000651202.1:c.*17-4C>T | ENSP00000498222.1:n.*17-4C>T | |
ENST00000351698.4:c.749-4C>T | ENSP00000345719.4:n.749-4C>T | |
ENST00000474192.1:n.333-4C>T | ||
NM_000113.2:c.749-4C>T | NP_000104.1:n.749-4C>T | |
XR_929731.1:n.1076-4C>T | ||
XR_929731.3:n.944-4C>T | ||
NM_000113.3:c.749-4C>T MANE Select | NP_000104.1:n.749-4C>T |