Linked Data
ClinVar Variation Id:
14534
ClinVar RCV Id:
RCV000015633
dbSNP Id:
rs121912491
gnomAD v3:
3-49131128-C-T
gnomAD v4:
3-49131128-C-T
PubMed:
PMID:16912710
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49131128C>T , CM000665.2:g.49131128C>T | GRCh38 |
| NC_000003.11:g.49168561C>T , CM000665.1:g.49168561C>T | GRCh37 |
| NC_000003.10:g.49143565C>T | NCBI36 |
| NG_008094.1:g.7039G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.737G>A MANE Select | ENSP00000307156.4:p.Arg246Gln | |
| ENST00000305544.8:c.737G>A | ENSP00000307156.4:p.Arg246Gln | |
| ENST00000418109.5:c.737G>A | ENSP00000388325.1:p.Arg246Gln | |
| ENST00000494831.1:c.290G>A | ENSP00000444751.1:p.Arg97Gln | |
| NM_002292.3:c.737G>A | NP_002283.3:p.Arg246Gln | |
| XM_005265127.3:c.737G>A | XP_005265184.1:p.Arg246Gln | |
| XM_005265127.4:c.737G>A | XP_005265184.1:p.Arg246Gln | |
| NM_002292.4:c.737G>A MANE Select | NP_002283.3:p.Arg246Gln |