HGVS | Genome Assembly |
---|---|
NC_000012.12:g.106463500T>A , CM000674.2:g.106463500T>A | GRCh38 |
NC_000012.11:g.106857278T>A , CM000674.1:g.106857278T>A | GRCh37 |
NC_000012.10:g.105381408T>A | NCBI36 |
NG_031837.1:g.110843T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228347.9:c.2593T>A MANE Select | ENSP00000228347.4:p.Tyr865Asn | |
ENST00000228347.8:c.2593T>A | ENSP00000228347.4:p.Tyr865Asn | |
ENST00000539066.5:c.2419T>A | ENSP00000445721.1:p.Tyr807Asn | |
NM_001160708.1:c.2419T>A | NP_001154180.1:p.Tyr807Asn | |
NM_018082.5:c.2593T>A | NP_060552.4:p.Tyr865Asn | |
XM_017019621.2:c.2593T>A | XP_016875110.1:p.Tyr865Asn | |
NM_018082.6:c.2593T>A MANE Select | NP_060552.4:p.Tyr865Asn | |
NM_001160708.2:c.2419T>A | NP_001154180.1:p.Tyr807Asn |