HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133258373G>T , CM000671.2:g.133258373G>T | GRCh38 |
NC_000009.11:g.136133764G>T , CM000671.1:g.136133764G>T | GRCh37 |
NC_000009.10:g.135123585G>T | NCBI36 |
NG_006669.1:g.19290C>A | |
NG_006669.2:g.21842C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.234-241C>A | ||
ENST00000647353.1:n.54-7221C>A | ||
ENST00000651471.1:n.239-241C>A | ||
ENST00000679909.1:c.28+16789C>A | ENSP00000506089.1:n.28+16789C>A | |
ENST00000453660.3:n.216-241C>A | ||
ENST00000538324.2:c.204-241C>A | ENSP00000483018.1:n.204-241C>A | |
ENST00000611156.4:c.204-241C>A | ENSP00000483265.1:n.204-241C>A | |
NM_020469.2:c.204-241C>A | NP_065202.2:n.204-241C>A | |
NM_020469.3:c.204-241C>A | NP_065202.2:n.204-241C>A |