HGVS | Genome Assembly |
---|---|
NC_000009.12:g.116372517A>G , CM000671.2:g.116372517A>G | GRCh38 |
NC_000009.11:g.119134796A>G , CM000671.1:g.119134796A>G | GRCh37 |
NC_000009.10:g.118174617A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000328252.4:c.4605+4763A>G MANE Select | ENSP00000330658.3:n.4605+4763A>G | |
ENST00000328252.3:c.4605+4763A>G | ENSP00000330658.3:n.4605+4763A>G | |
NM_002581.3:c.4605+4763A>G | NP_002572.2:n.4605+4763A>G | |
XM_006717129.1:c.2511+4763A>G | XP_006717192.1:n.2511+4763A>G | |
NM_002581.4:c.4605+4763A>G | NP_002572.2:n.4605+4763A>G | |
XM_006717129.3:c.2511+4763A>G | XP_006717192.1:n.2511+4763A>G | |
XM_017014784.2:c.4491+4763A>G | XP_016870273.1:n.4491+4763A>G | |
NM_002581.5:c.4605+4763A>G MANE Select | NP_002572.2:n.4605+4763A>G |