HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12887168A>G , CM000681.2:g.12887168A>G | GRCh38 |
NC_000019.9:g.12997982A>G , CM000681.1:g.12997982A>G | GRCh37 |
NC_000019.8:g.12858982A>G | NCBI36 |
NG_009292.1:g.1009A>G | |
NG_013087.1:g.5036T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264834.6:c.-28T>C MANE Select | ENSP00000264834.3:n.-28T>C | |
ENST00000264834.4:c.-28T>C | ENSP00000264834.3:n.-28T>C | |
NM_006563.3:c.-28T>C | NP_006554.1:n.-28T>C | |
NM_006563.4:c.-28T>C | NP_006554.1:n.-28T>C | |
NM_006563.5:c.-28T>C MANE Select | NP_006554.1:n.-28T>C |