Linked Data
ClinVar Variation Id:
402580
ClinVar RCV Id:
RCV000454447
dbSNP Id:
rs2071426
gnomAD v2:
10-96828323-T-C
gnomAD v3:
10-95068566-T-C
gnomAD v4:
10-95068566-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95068566T>C , CM000672.2:g.95068566T>C | GRCh38 |
| NC_000010.10:g.96828323T>C , CM000672.1:g.96828323T>C | GRCh37 |
| NC_000010.9:g.96818313T>C | NCBI36 |
| NG_007972.1:g.5932A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371270.6:c.168+669A>G MANE Select | ENSP00000360317.3:n.168+669A>G | |
| ENST00000371270.5:c.168+669A>G | ENSP00000360317.3:n.168+669A>G | |
| ENST00000479946.2:n.301+631A>G | ||
| ENST00000490994.6:c.206+631A>G | ENSP00000433314.1:n.206+631A>G | |
| ENST00000525991.5:c.206+631A>G | ENSP00000433842.1:n.206+631A>G | |
| ENST00000526814.5:n.252+669A>G | ||
| ENST00000527420.5:c.168+669A>G | ENSP00000433191.1:n.168+669A>G | |
| ENST00000527953.5:n.252+669A>G | ||
| ENST00000533320.5:n.231+631A>G | ||
| ENST00000535898.5:c.25+631A>G | ENSP00000445062.1:n.25+631A>G | |
| ENST00000539050.5:c.-43+1A>G | ENSP00000442343.2:n.-43+1A>G | |
| ENST00000623108.3:c.-43+631A>G | ENSP00000485110.1:n.-43+631A>G | |
| NM_000770.3:c.168+669A>G MANE Select | NP_000761.3:n.168+669A>G | |
| NM_001198853.1:c.-43+631A>G | NP_001185782.1:n.-43+631A>G | |
| NM_001198854.1:c.25+631A>G | NP_001185783.1:n.25+631A>G | |
| NM_001198855.1:c.-43+1A>G | NP_001185784.1:n.-43+1A>G | |
| XR_945610.1:n.264+669A>G |