Linked Data
ClinVar Variation Id:
1795458
ClinVar RCV Id:
RCV002439268
dbSNP Id:
rs749511416
ExAC:
2:203421130 T / C
gnomAD v2:
2-203421130-T-C
gnomAD v4:
2-202556407-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202556407T>C , CM000664.2:g.202556407T>C | GRCh38 |
| NC_000002.11:g.203421130T>C , CM000664.1:g.203421130T>C | GRCh37 |
| NC_000002.10:g.203129375T>C | NCBI36 |
| NG_009363.1:g.185081T>C , LRG_712:g.185081T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.2742T>C MANE Select | ENSP00000363708.4:p.Asp914= | |
| ENST00000638587.1:c.2673T>C | ENSP00000491062.1:n.2673T>C | |
| ENST00000374574.2:c.1587-3289T>C | ENSP00000363702.2:n.1587-3289T>C | |
| ENST00000374580.8:c.2742T>C | ENSP00000363708.4:p.Asp914= | |
| NM_001204.6:c.2742T>C , LRG_712t1:c.2742T>C | NP_001195.2:p.Asp914= | |
| XM_011511687.1:c.2742T>C | XP_011509989.1:p.Asp914= | |
| XM_011511688.1:c.1587-3289T>C | XP_011509990.1:n.1587-3289T>C | |
| NM_001204.7:c.2742T>C MANE Select | NP_001195.2:p.Asp914= |