Linked Data
ClinVar Variation Id:
1265137
ClinVar RCV Id:
RCV001677910
dbSNP Id:
rs2303565
ExAC:
2:219545309 T / C
gnomAD v2:
2-219545309-T-C
gnomAD v3:
2-218680586-T-C
gnomAD v4:
2-218680586-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218680586T>C , CM000664.2:g.218680586T>C | GRCh38 |
| NC_000002.11:g.219545309T>C , CM000664.1:g.219545309T>C | GRCh37 |
| NC_000002.10:g.219253553T>C | NCBI36 |
| NG_029739.1:g.13561T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295709.8:c.1137-17T>C MANE Select | ENSP00000295709.3:n.1137-17T>C | |
| ENST00000295709.7:c.1137-17T>C | ENSP00000295709.3:n.1137-17T>C | |
| ENST00000392105.7:c.1137-17T>C | ENSP00000375954.3:n.1137-17T>C | |
| ENST00000414413.5:c.32-17T>C | ||
| ENST00000440309.5:c.1137-17T>C | ENSP00000394095.1:n.1137-17T>C | |
| NM_001243313.1:c.1137-17T>C | NP_001230242.1:n.1137-17T>C | |
| NM_015690.4:c.1137-17T>C | NP_056505.2:n.1137-17T>C | |
| XM_005246464.1:c.1137-17T>C | XP_005246521.1:n.1137-17T>C | |
| XM_011510959.1:c.1137-17T>C | XP_011509261.1:n.1137-17T>C | |
| XM_011510960.1:c.975-17T>C | XP_011509262.1:n.975-17T>C | |
| XR_922904.1:n.1416-17T>C | ||
| XM_005246464.2:c.1137-17T>C | XP_005246521.1:n.1137-17T>C | |
| XM_011510959.2:c.1137-17T>C | XP_011509261.1:n.1137-17T>C | |
| XM_017003804.2:c.1137-17T>C | XP_016859293.1:n.1137-17T>C | |
| XM_017003805.2:c.-560-17T>C | XP_016859294.1:n.-560-17T>C | |
| XR_001738704.2:n.1393-17T>C | ||
| XR_922904.2:n.1393-17T>C | ||
| NM_015690.5:c.1137-17T>C MANE Select | NP_056505.2:n.1137-17T>C | |
| NM_001243313.2:c.1137-17T>C | NP_001230242.1:n.1137-17T>C | |
| NM_001369423.1:c.1137-17T>C | NP_001356352.1:n.1137-17T>C |