Linked Data
ClinVar Variation Id:
2876491
ClinVar RCV Id:
RCV003602741
dbSNP Id:
rs780147373
ExAC:
2:71351693 T / C
gnomAD v2:
2-71351693-T-C
gnomAD v4:
2-71124563-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124563T>C , CM000664.2:g.71124563T>C | GRCh38 |
| NC_000002.11:g.71351693T>C , CM000664.1:g.71351693T>C | GRCh37 |
| NC_000002.10:g.71205201T>C | NCBI36 |
| NG_008977.1:g.10702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.41-20A>G MANE Select | ENSP00000244217.5:n.41-20A>G | |
| ENST00000244217.5:c.41-20A>G | ENSP00000244217.5:n.41-20A>G | |
| ENST00000486135.1:c.-245-20A>G | ENSP00000441569.1:n.-245-20A>G | |
| ENST00000494660.6:c.-245-20A>G | ENSP00000437361.1:n.-245-20A>G | |
| NM_032601.3:c.41-20A>G | NP_115990.3:n.41-20A>G | |
| XM_005264613.2:c.41-20A>G | XP_005264670.1:n.41-20A>G | |
| XR_939729.1:n.110-20A>G | ||
| XR_939729.2:n.110-20A>G | ||
| NM_032601.4:c.41-20A>G MANE Select | NP_115990.3:n.41-20A>G |