HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101421585T>G , CM000671.2:g.101421585T>G | GRCh38 |
NC_000009.11:g.104183867T>G , CM000671.1:g.104183867T>G | GRCh37 |
NC_000009.10:g.103223688T>G | NCBI36 |
NG_012387.1:g.19196A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.*224A>C MANE Select | ENSP00000497767.1:n.*224A>C | |
ENST00000648064.1:c.*224A>C | ENSP00000497990.1:n.*224A>C | |
ENST00000374855.8:c.*224A>C | ENSP00000363988.4:n.*224A>C | |
ENST00000616752.1:c.*331A>C | ENSP00000481363.1:n.*331A>C | |
NM_000035.3:c.*224A>C | NP_000026.2:n.*224A>C | |
NM_000035.4:c.*224A>C MANE Select | NP_000026.2:n.*224A>C |