Linked Data
ClinVar Variation Id:
1268969
ClinVar RCV Id:
RCV001680074
dbSNP Id:
rs2637777
ExAC:
4:187525020 A / C
gnomAD v2:
4-187525020-A-C
gnomAD v3:
4-186603866-A-C
gnomAD v4:
4-186603866-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186603866A>C , CM000666.2:g.186603866A>C | GRCh38 |
| NC_000004.11:g.187525020A>C , CM000666.1:g.187525020A>C | GRCh37 |
| NC_000004.10:g.187762014A>C | NCBI36 |
| NG_046994.1:g.128050T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441802.7:c.10660T>G MANE Select | ENSP00000406229.2:p.Ser3554Ala | |
| ENST00000441802.6:c.10660T>G | ENSP00000406229.2:p.Ser3554Ala | |
| ENST00000614102.4:c.10666T>G | ENSP00000479573.1:p.Ser3556Ala | |
| NM_005245.3:c.10660T>G | NP_005236.2:p.Ser3554Ala | |
| XM_005262834.2:c.10660T>G | XP_005262891.1:p.Ser3554Ala | |
| XM_005262835.1:c.10660T>G | XP_005262892.1:p.Ser3554Ala | |
| XM_006714139.2:c.10660T>G | XP_006714202.1:p.Ser3554Ala | |
| XM_005262834.3:c.10660T>G | XP_005262891.1:p.Ser3554Ala | |
| XM_005262835.2:c.10660T>G | XP_005262892.1:p.Ser3554Ala | |
| XM_006714139.3:c.10660T>G | XP_006714202.1:p.Ser3554Ala | |
| NM_005245.4:c.10660T>G MANE Select | NP_005236.2:p.Ser3554Ala |