Linked Data
ClinVar Variation Id:
1078790
ClinVar RCV Id:
RCV001393826
dbSNP Id:
rs762252955
ExAC:
7:23205517 T / C
gnomAD v2:
7-23205517-T-C
gnomAD v4:
7-23165898-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23165898T>C , CM000669.2:g.23165898T>C | GRCh38 |
| NC_000007.13:g.23205517T>C , CM000669.1:g.23205517T>C | GRCh37 |
| NC_000007.12:g.23172042T>C | NCBI36 |
| NG_016983.1:g.65165T>C | |
| NG_016983.2:g.65165T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339077.10:c.1137T>C MANE Select | ENSP00000343273.4:p.Ala379= | |
| ENST00000339077.9:c.1137T>C | ENSP00000343273.4:p.Ala379= | |
| ENST00000409689.5:c.993T>C | ENSP00000386263.1:p.Ala331= | |
| ENST00000469576.1:n.24T>C | ||
| ENST00000521082.5:c.*1145T>C | ENSP00000430351.1:n.*1145T>C | |
| NM_001031710.2:c.1137T>C | NP_001026880.2:p.Ala379= | |
| NM_018846.4:c.993T>C | NP_061334.4:p.Ala331= | |
| NR_033328.1:n.1561T>C | ||
| XM_006715753.1:c.1176T>C | XP_006715816.1:p.Ala392= | |
| XM_006715754.1:c.1110T>C | XP_006715817.1:p.Ala370= | |
| XM_006715755.1:c.1110T>C | XP_006715818.1:p.Ala370= | |
| XM_006715756.1:c.1032T>C | XP_006715819.1:p.Ala344= | |
| XM_006715753.3:c.1176T>C | XP_006715816.1:p.Ala392= | |
| XM_006715754.3:c.1110T>C | XP_006715817.1:p.Ala370= | |
| XM_006715755.3:c.1110T>C | XP_006715818.1:p.Ala370= | |
| XM_006715756.3:c.1032T>C | XP_006715819.1:p.Ala344= | |
| XM_017012439.2:c.1071T>C | XP_016867928.1:p.Ala357= | |
| NM_001031710.3:c.1137T>C MANE Select | NP_001026880.2:p.Ala379= | |
| NM_018846.5:c.993T>C | NP_061334.4:p.Ala331= | |
| NR_033328.2:n.1510T>C |