Linked Data
ClinVar Variation Id:
403002
dbSNP Id:
rs1131820
ExAC:
1:154744852 A / G
gnomAD v2:
1-154744852-A-G
gnomAD v3:
1-154772376-A-G
gnomAD v4:
1-154772376-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154772376A>G , CM000663.2:g.154772376A>G | GRCh38 |
| NC_000001.10:g.154744852A>G , CM000663.1:g.154744852A>G | GRCh37 |
| NC_000001.9:g.153011476A>G | NCBI36 |
| NG_016807.2:g.102903T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271915.9:c.1047T>C MANE Select | ENSP00000271915.3:p.Asn349= | |
| ENST00000271915.8:c.1047T>C | ENSP00000271915.3:p.Asn349= | |
| ENST00000358505.2:c.108T>C | ENSP00000351295.2:p.Asn36= | |
| ENST00000361147.8:c.132T>C | ENSP00000354764.4:p.Asn44= | |
| ENST00000618040.4:c.1047T>C | ENSP00000481848.1:p.Asn349= | |
| NM_001204087.1:c.1047T>C | NP_001191016.1:p.Asn349= | |
| NM_002249.5:c.1047T>C | NP_002240.3:p.Asn349= | |
| NM_170782.2:c.132T>C | NP_740752.1:p.Asn44= | |
| NM_001365837.1:c.108T>C | NP_001352766.1:p.Asn36= | |
| NM_001365838.1:c.108T>C | NP_001352767.1:p.Asn36= | |
| NM_002249.6:c.1047T>C MANE Select | NP_002240.3:p.Asn349= | |
| NM_170782.3:c.132T>C | NP_740752.1:p.Asn44= | |
| NM_001204087.2:c.1047T>C | NP_001191016.1:p.Asn349= |