HGVS | Genome Assembly |
---|---|
NC_000001.11:g.206775993C>T , CM000663.2:g.206775993C>T | GRCh38 |
NC_000001.10:g.206949338C>T , CM000663.1:g.206949338C>T | GRCh37 |
NC_000001.9:g.205015961C>T | NCBI36 |
NG_012088.1:g.1502G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000659997.3:c.-149+4915C>T MANE Select | ENSP00000499459.2:n.-149+4915C>T | |
ENST00000656872.2:c.-149+5163C>T | ENSP00000499487.2:n.-149+5163C>T | |
ENST00000659997.2:c.-149+4915C>T | ENSP00000499459.2:n.-149+4915C>T | |
ENST00000662320.1:n.67+5163C>T | ||
NM_153758.3:c.-35+4915C>T | NP_715639.1:n.-35+4915C>T | |
NM_001393490.1:c.-149+5163C>T | NP_001380419.1:n.-149+5163C>T | |
NM_153758.5:c.-149+4915C>T MANE Select | NP_715639.2:n.-149+4915C>T |