Linked Data
ClinVar Variation Id:
1287377
ClinVar RCV Id:
RCV001710504
dbSNP Id:
rs2071277
ExAC:
6:32171683 T / C
gnomAD v2:
6-32171683-T-C
gnomAD v3:
6-32203906-T-C
gnomAD v4:
6-32203906-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32203906T>C , CM000668.2:g.32203906T>C | GRCh38 |
| NC_000006.11:g.32171683T>C , CM000668.1:g.32171683T>C | GRCh37 |
| NC_000006.10:g.32279661T>C | NCBI36 |
| NG_028190.1:g.25162A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375023.3:c.3119-24A>G MANE Select | ENSP00000364163.3:n.3119-24A>G | |
| ENST00000474612.1:n.35-24A>G | ||
| NM_004557.3:c.3119-24A>G | NP_004548.3:n.3119-24A>G | |
| NR_134949.1:n.3360-24A>G | ||
| NR_134950.1:n.3258-24A>G | ||
| NM_004557.4:c.3119-24A>G MANE Select | NP_004548.3:n.3119-24A>G | |
| NR_134949.2:n.3360-24A>G | ||
| NR_134950.2:n.3258-24A>G |