HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667132A>T , CM000683.2:g.31667132A>T | GRCh38 |
NC_000021.8:g.33039445A>T , CM000683.1:g.33039445A>T | GRCh37 |
NC_000021.7:g.31961316A>T | NCBI36 |
NG_008689.1:g.12511A>T , LRG_652:g.12511A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.240-126A>T MANE Select | ENSP00000270142.7:n.240-126A>T | |
ENST00000270142.10:c.240-126A>T | ENSP00000270142.6:n.240-126A>T | |
ENST00000389995.4:c.183-126A>T | ENSP00000374645.4:n.183-126A>T | |
ENST00000470944.1:n.1168-126A>T | ||
ENST00000476106.5:n.503-126A>T | ||
NM_000454.4:c.240-126A>T , LRG_652t1:c.240-126A>T | NP_000445.1:n.240-126A>T | |
NM_000454.5:c.240-126A>T MANE Select | NP_000445.1:n.240-126A>T |