Linked Data
ClinVar Variation Id:
94947
ClinVar RCV Id:
RCV000080952
RCV000259065
RCV000359943
RCV001082869
RCV001548748
RCV004019559
RCV004549514
dbSNP Id:
rs113153193
ExAC:
2:238274569 G / T
gnomAD v2:
2-238274569-G-T
gnomAD v3:
2-237365926-G-T
gnomAD v4:
2-237365926-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237365926G>T , CM000664.2:g.237365926G>T | GRCh38 |
| NC_000002.11:g.238274569G>T , CM000664.1:g.238274569G>T | GRCh37 |
| NC_000002.10:g.237939308G>T | NCBI36 |
| NG_008676.1:g.53282C>A , LRG_473:g.53282C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.4992C>A | ENSP00000315873.4:p.Ser1664Arg | |
| ENST00000295550.9:c.5610C>A MANE Select | ENSP00000295550.4:p.Ser1870Arg | |
| ENST00000295550.8:c.5610C>A | ENSP00000295550.4:p.Ser1870Arg | |
| ENST00000347401.7:c.3789C>A | ENSP00000315609.4:p.Ser1263Arg | |
| ENST00000353578.8:c.4992C>A | ENSP00000315873.4:p.Ser1664Arg | |
| ENST00000409809.5:c.4992C>A | ENSP00000386844.1:p.Ser1664Arg | |
| ENST00000472056.5:c.3789C>A | ENSP00000418285.1:p.Ser1263Arg | |
| NM_004369.3:c.5610C>A , LRG_473t1:c.5610C>A | NP_004360.2:p.Ser1870Arg | |
| NM_057166.4:c.3789C>A | NP_476507.3:p.Ser1263Arg | |
| NM_057167.3:c.4992C>A | NP_476508.2:p.Ser1664Arg | |
| XM_005246065.1:c.5010C>A | XP_005246122.1:p.Ser1670Arg | |
| XM_005246066.1:c.4389C>A | XP_005246123.1:p.Ser1463Arg | |
| XM_006712253.1:c.5109C>A | XP_006712316.1:p.Ser1703Arg | |
| XM_011510574.1:c.5607C>A | XP_011508876.1:p.Ser1869Arg | |
| XM_011510575.1:c.3204C>A | XP_011508877.1:p.Ser1068Arg | |
| XM_017003304.1:c.3204C>A | XP_016858793.1:p.Ser1068Arg | |
| XM_024452684.1:c.4389C>A | XP_024308452.1:p.Ser1463Arg | |
| NM_004369.4:c.5610C>A MANE Select | NP_004360.2:p.Ser1870Arg | |
| NM_057166.5:c.3789C>A | NP_476507.3:p.Ser1263Arg | |
| NM_057167.4:c.4992C>A | NP_476508.2:p.Ser1664Arg |