HGVS | Genome Assembly |
---|---|
NC_000001.11:g.40097459G>T , CM000663.2:g.40097459G>T | GRCh38 |
NC_000001.10:g.40563131G>T , CM000663.1:g.40563131G>T | GRCh37 |
NC_000001.9:g.40335718G>T | NCBI36 |
NG_009192.1:g.5012C>A , LRG_690:g.5012C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000433473.7:c.-221C>A | ENSP00000394863.3:n.-221C>A | |
NM_000310.3:c.-221C>A , LRG_690t1:c.-221C>A | NP_000301.1:n.-221C>A | |
NM_001142604.1:c.-221C>A | NP_001136076.1:n.-221C>A | |
NM_001363695.1:c.-221C>A | NP_001350624.1:n.-221C>A |