HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133260321G>A , CM000671.2:g.133260321G>A | GRCh38 |
NC_000009.11:g.136135724G>A , CM000671.1:g.136135724G>A | GRCh37 |
NC_000009.10:g.135125545G>A | NCBI36 |
NG_006669.1:g.17329C>T | |
NG_006669.2:g.19894C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.186-455C>T | ||
ENST00000647353.1:n.54-9169C>T | ||
ENST00000651471.1:n.191-455C>T | ||
ENST00000679909.1:c.28+14841C>T | ENSP00000506089.1:n.28+14841C>T | |
ENST00000453660.3:n.168-455C>T | ||
ENST00000538324.2:c.156-455C>T | ENSP00000483018.1:n.156-455C>T | |
ENST00000611156.4:c.156-455C>T | ENSP00000483265.1:n.156-455C>T | |
NM_020469.2:c.156-455C>T | NP_065202.2:n.156-455C>T | |
NM_020469.3:c.156-455C>T | NP_065202.2:n.156-455C>T |