Linked Data
ClinVar Variation Id:
5745
ClinVar RCV Id:
RCV000006101
dbSNP Id:
rs137853133
gnomAD v3:
9-128350335-T-C
gnomAD v4:
9-128350335-T-C
PubMed:
PMID:19631310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128350335T>C , CM000671.2:g.128350335T>C | GRCh38 |
| NC_000009.11:g.131112614T>C , CM000671.1:g.131112614T>C | GRCh37 |
| NC_000009.10:g.130152435T>C | NCBI36 |
| NG_017057.1:g.14776T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300456.5:c.739T>C MANE Select | ENSP00000300456.3:p.Ser247Pro | |
| ENST00000300456.4:c.739T>C | ENSP00000300456.3:p.Ser247Pro | |
| ENST00000372870.5:c.232-4843T>C | ENSP00000361961.1:n.232-4843T>C | |
| NM_005094.3:c.739T>C | NP_005085.2:p.Ser247Pro | |
| XM_017014222.1:c.739T>C | XP_016869711.1:p.Ser247Pro | |
| XM_024447391.1:c.739T>C | XP_024303159.1:p.Ser247Pro | |
| NM_005094.4:c.739T>C MANE Select | NP_005085.2:p.Ser247Pro |