HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48368556G>A , CM000675.2:g.48368556G>A | GRCh38 |
NC_000013.10:g.48942692G>A , CM000675.1:g.48942692G>A | GRCh37 |
NC_000013.9:g.47840693G>A | NCBI36 |
NG_009009.1:g.69810G>A , LRG_517:g.69810G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1079G>A MANE Select | ENSP00000267163.4:p.Ser360Asn | |
ENST00000650461.1:c.1079G>A | ENSP00000497193.1:p.Ser360Asn | |
ENST00000267163.4:c.1079G>A | ENSP00000267163.4:p.Ser360Asn | |
NM_000321.2:c.1079G>A , LRG_517t1:c.1079G>A | NP_000312.2:p.Ser360Asn | |
XM_011535171.1:c.818G>A | XP_011533473.1:p.Ser273Asn | |
XM_011535171.2:c.818G>A | XP_011533473.1:p.Ser273Asn | |
XR_002957522.1:n.122-3580C>T | ||
NM_000321.3:c.1079G>A MANE Select | NP_000312.2:p.Ser360Asn |