HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133261644C>G , CM000671.2:g.133261644C>G | GRCh38 |
NC_000009.11:g.136137047C>G , CM000671.1:g.136137047C>G | GRCh37 |
NC_000009.10:g.135126868C>G | NCBI36 |
NG_006669.1:g.16006G>C | |
NG_006669.2:g.18571G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.129-270G>C | ||
ENST00000647353.1:n.54-10492G>C | ||
ENST00000651471.1:n.134-270G>C | ||
ENST00000679909.1:c.28+13518G>C | ENSP00000506089.1:n.28+13518G>C | |
ENST00000453660.3:n.111-270G>C | ||
ENST00000538324.2:c.99-270G>C | ENSP00000483018.1:n.99-270G>C | |
ENST00000611156.4:c.99-270G>C | ENSP00000483265.1:n.99-270G>C | |
NM_020469.2:c.99-270G>C | NP_065202.2:n.99-270G>C | |
NM_020469.3:c.99-270G>C | NP_065202.2:n.99-270G>C |