Linked Data
ClinVar Variation Id:
1379453
ClinVar RCV Id:
RCV001883784
dbSNP Id:
rs375964293
gnomAD v2:
3-49160695-C-T
gnomAD v3:
3-49123262-C-T
gnomAD v4:
3-49123262-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123262C>T , CM000665.2:g.49123262C>T | GRCh38 |
| NC_000003.11:g.49160695C>T , CM000665.1:g.49160695C>T | GRCh37 |
| NC_000003.10:g.49135699C>T | NCBI36 |
| NG_008094.1:g.14905G>A | |
| NG_054716.1:g.2677G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4094G>A MANE Select | ENSP00000307156.4:p.Arg1365Gln | |
| ENST00000305544.8:c.4094G>A | ENSP00000307156.4:p.Arg1365Gln | |
| ENST00000418109.5:c.4094G>A | ENSP00000388325.1:p.Arg1365Gln | |
| ENST00000469665.1:n.324G>A | ||
| NM_002292.3:c.4094G>A | NP_002283.3:p.Arg1365Gln | |
| XM_005265127.3:c.4094G>A | XP_005265184.1:p.Arg1365Gln | |
| XM_005265127.4:c.4094G>A | XP_005265184.1:p.Arg1365Gln | |
| NM_002292.4:c.4094G>A MANE Select | NP_002283.3:p.Arg1365Gln |