Linked Data
ClinVar Variation Id:
861175
ClinVar RCV Id:
RCV001067638
dbSNP Id:
rs1362828312
gnomAD v2:
5-79970928-A-G
gnomAD v3:
5-80675109-A-G
gnomAD v4:
5-80675109-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675109A>G , CM000667.2:g.80675109A>G | GRCh38 |
| NC_000005.9:g.79970928A>G , CM000667.1:g.79970928A>G | GRCh37 |
| NC_000005.8:g.80006684A>G | NCBI36 |
| NG_016607.1:g.25635A>G | |
| NG_016607.2:g.25635A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1154A>G MANE Select | ENSP00000265081.6:p.Asn385Ser | |
| ENST00000658259.1:c.986A>G | ENSP00000499617.1:p.Asn329Ser | |
| ENST00000667069.1:c.1154A>G | ENSP00000499502.1:p.Asn385Ser | |
| ENST00000670357.1:c.1154A>G | ENSP00000499791.1:p.Asn385Ser | |
| ENST00000265081.6:c.1154A>G | ENSP00000265081.6:p.Asn385Ser | |
| NM_002439.4:c.1154A>G | NP_002430.3:p.Asn385Ser | |
| NM_002439.5:c.1154A>G MANE Select | NP_002430.3:p.Asn385Ser |