HGVS | Genome Assembly |
---|---|
NC_000009.12:g.78325660G>A , CM000671.2:g.78325660G>A | GRCh38 |
NC_000009.11:g.80940576G>A , CM000671.1:g.80940576G>A | GRCh37 |
NC_000009.10:g.80130396G>A | NCBI36 |
NG_012165.1:g.33518G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376588.4:c.870-2391G>A MANE Select | ENSP00000365773.3:n.870-2391G>A | |
ENST00000347159.6:c.870-3321G>A | ENSP00000317606.2:n.870-3321G>A | |
ENST00000376588.3:c.870-2391G>A | ENSP00000365773.3:n.870-2391G>A | |
NM_021154.4:c.870-3321G>A | NP_066977.1:n.870-3321G>A | |
NM_058179.3:c.870-2391G>A | NP_478059.1:n.870-2391G>A | |
NM_058179.4:c.870-2391G>A MANE Select | NP_478059.1:n.870-2391G>A | |
NM_021154.5:c.870-3321G>A | NP_066977.1:n.870-3321G>A |