Linked Data
ClinVar Variation Id:
2599600
ClinVar RCV Id:
RCV004349470
dbSNP Id:
rs148317501
ExAC:
2:170606069 G / A
gnomAD v2:
2-170606069-G-A
gnomAD v3:
2-169749559-G-A
gnomAD v4:
2-169749559-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169749559G>A , CM000664.2:g.169749559G>A | GRCh38 |
| NC_000002.11:g.170606069G>A , CM000664.1:g.170606069G>A | GRCh37 |
| NC_000002.10:g.170314315G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392647.7:c.1504G>A MANE Select | ENSP00000376419.2:p.Gly502Ser | |
| ENST00000272797.8:c.1504G>A | ENSP00000272797.4:p.Gly502Ser | |
| ENST00000392647.6:c.1504G>A | ENSP00000376419.2:p.Gly502Ser | |
| ENST00000437875.1:c.829+8022G>A | ENSP00000394732.1:n.829+8022G>A | |
| ENST00000448589.1:c.45+8022G>A | ||
| ENST00000498202.6:c.25G>A | ENSP00000474581.1:p.Gly9Ser | |
| ENST00000602521.1:c.25G>A | ENSP00000475081.1:p.Gly9Ser | |
| NM_001199290.1:c.1504G>A | NP_001186219.1:p.Gly502Ser | |
| NM_144711.5:c.1504G>A | NP_653312.2:p.Gly502Ser | |
| NM_001199290.2:c.1504G>A | NP_001186219.1:p.Gly502Ser | |
| NR_144936.1:n.687G>A | ||
| NM_144711.6:c.1504G>A MANE Select | NP_653312.2:p.Gly502Ser | |
| NM_001199290.3:c.1504G>A | NP_001186219.1:p.Gly502Ser | |
| NR_144936.2:n.649G>A |