Linked Data
ClinVar Variation Id:
1534591
dbSNP Id:
rs200577486
ExAC:
11:45832421 G / A
gnomAD v2:
11-45832421-G-A
gnomAD v3:
11-45810870-G-A
gnomAD v4:
11-45810870-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45810870G>A , CM000673.2:g.45810870G>A | GRCh38 |
| NC_000011.9:g.45832421G>A , CM000673.1:g.45832421G>A | GRCh37 |
| NC_000011.8:g.45788997G>A | NCBI36 |
| NG_009875.1:g.11799G>A , LRG_107:g.11799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.591G>A | ENSP00000432145.2:p.Ser197= | |
| ENST00000314134.4:c.630G>A MANE Select | ENSP00000313318.3:p.Ser210= | |
| ENST00000314134.3:c.630G>A | ENSP00000313318.3:p.Ser210= | |
| ENST00000442528.2:c.591G>A | ENSP00000412408.2:p.Ser197= | |
| NM_001145265.1:c.591G>A | NP_001138737.1:p.Ser197= | |
| NM_001145266.1:c.591G>A | NP_001138738.1:p.Ser197= | |
| NM_018389.4:c.630G>A , LRG_107t1:c.630G>A | NP_060859.4:p.Ser210= | |
| XM_011520202.1:c.123G>A | XP_011518504.1:p.Ser41= | |
| XM_011520202.2:c.123G>A | XP_011518504.1:p.Ser41= | |
| NM_001145265.2:c.591G>A | NP_001138737.1:p.Ser197= | |
| NM_018389.5:c.630G>A MANE Select | NP_060859.4:p.Ser210= |