Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571401G>A , CM000663.2:g.154571401G>A | GRCh38 |
| NC_000001.10:g.154543877G>A , CM000663.1:g.154543877G>A | GRCh37 |
| NC_000001.9:g.152810501G>A | NCBI36 |
| NG_008027.1:g.8621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.578G>A MANE Select | ENSP00000357461.3:p.Ser193Asn | |
| ENST00000636034.1:c.578G>A | ENSP00000489703.1:p.Ser193Asn | |
| ENST00000637900.1:c.584G>A | ENSP00000490474.1:p.Ser195Asn | |
| ENST00000368476.3:c.578G>A | ENSP00000357461.3:p.Ser193Asn | |
| NM_000748.2:c.578G>A | NP_000739.1:p.Ser193Asn | |
| XM_017000180.2:c.68G>A | XP_016855669.1:p.Ser23Asn | |
| XR_001736952.2:n.830G>A | ||
| NM_000748.3:c.578G>A MANE Select | NP_000739.1:p.Ser193Asn |