Linked Data
ClinVar Variation Id:
21628
dbSNP Id:
rs193251130
ExAC:
1:197060077 T / G
gnomAD v2:
1-197060077-T-G
gnomAD v3:
1-197090947-T-G
gnomAD v4:
1-197090947-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090947T>G , CM000663.2:g.197090947T>G | GRCh38 |
| NC_000001.10:g.197060077T>G , CM000663.1:g.197060077T>G | GRCh37 |
| NC_000001.9:g.195326700T>G | NCBI36 |
| NG_015867.1:g.60748A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2826A>C | ||
| ENST00000367409.9:c.9539A>C MANE Select | ENSP00000356379.4:p.Gln3180Pro | |
| ENST00000680265.1:c.9761A>C | ENSP00000505384.1:p.Gln3254Pro | |
| ENST00000680710.1:c.9515A>C | ENSP00000506676.1:p.Gln3172Pro | |
| ENST00000294732.11:c.4784A>C | ENSP00000294732.7:p.Gln1595Pro | |
| ENST00000367408.5:c.2534A>C | ENSP00000356378.1:p.Gln845Pro | |
| ENST00000367409.8:c.9539A>C | ENSP00000356379.4:p.Gln3180Pro | |
| ENST00000612785.1:c.3497A>C | ENSP00000479244.1:p.Gln1166Pro | |
| NM_001206846.1:c.4784A>C | NP_001193775.1:p.Gln1595Pro | |
| NM_018136.4:c.9539A>C | NP_060606.3:p.Gln3180Pro | |
| NM_018136.5:c.9539A>C MANE Select | NP_060606.3:p.Gln3180Pro | |
| NM_001206846.2:c.4784A>C | NP_001193775.1:p.Gln1595Pro |