Linked Data
ClinVar Variation Id:
291495
dbSNP Id:
rs75495145
ExAC:
1:103352416 T / C
gnomAD v2:
1-103352416-T-C
gnomAD v3:
1-102886860-T-C
gnomAD v4:
1-102886860-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102886860T>C , CM000663.2:g.102886860T>C | GRCh38 |
| NC_000001.10:g.103352416T>C , CM000663.1:g.103352416T>C | GRCh37 |
| NC_000001.9:g.103125004T>C | NCBI36 |
| NG_008033.1:g.226637A>G | |
| NG_008033.2:g.226637A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.4805A>G MANE Select | ENSP00000359114.3:p.Asn1602Ser | |
| ENST00000353414.8:c.4688A>G | ENSP00000302551.6:p.Asn1563Ser | |
| ENST00000358392.6:c.4841A>G | ENSP00000351163.2:p.Asn1614Ser | |
| ENST00000370096.7:c.4805A>G | ENSP00000359114.3:p.Asn1602Ser | |
| ENST00000512756.5:c.4457A>G | ENSP00000426533.1:p.Asn1486Ser | |
| ENST00000635193.1:c.4139A>G | ||
| NM_001190709.1:c.4688A>G | NP_001177638.1:p.Asn1563Ser | |
| NM_001854.3:c.4805A>G | NP_001845.3:p.Asn1602Ser | |
| NM_080629.2:c.4841A>G | NP_542196.2:p.Asn1614Ser | |
| NM_080630.3:c.4457A>G | NP_542197.3:p.Asn1486Ser | |
| XM_011540720.1:c.3038A>G | XP_011539022.1:p.Asn1013Ser | |
| XM_011540721.1:c.2393A>G | XP_011539023.1:p.Asn798Ser | |
| NR_134980.1:n.5139A>G | ||
| XM_017000334.1:c.4958A>G | XP_016855823.1:p.Asn1653Ser | |
| XM_017000335.1:c.4952A>G | XP_016855824.1:p.Asn1651Ser | |
| XM_017000337.1:c.3356A>G | XP_016855826.1:p.Asn1119Ser | |
| NM_001854.4:c.4805A>G MANE Select | NP_001845.3:p.Asn1602Ser | |
| NM_080630.4:c.4457A>G | NP_542197.3:p.Asn1486Ser | |
| NR_134980.2:n.5165A>G | ||
| NM_001190709.2:c.4688A>G | NP_001177638.1:p.Asn1563Ser | |
| NM_080629.3:c.4841A>G | NP_542196.2:p.Asn1614Ser |