Linked Data
ClinVar Variation Id:
2786152
ClinVar RCV Id:
RCV003666295
dbSNP Id:
rs1564399262
gnomAD v2:
10-8100717-T-C
gnomAD v3:
10-8058754-T-C
gnomAD v4:
10-8058754-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058754T>C , CM000672.2:g.8058754T>C | GRCh38 |
| NC_000010.10:g.8100717T>C , CM000672.1:g.8100717T>C | GRCh37 |
| NC_000010.9:g.8140723T>C | NCBI36 |
| NG_015859.1:g.9051T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.691T>C | ENSP00000341619.3:p.Ser231Pro | |
| ENST00000379328.9:c.691T>C MANE Select | ENSP00000368632.3:p.Ser231Pro | |
| ENST00000346208.3:c.691T>C | ENSP00000341619.3:p.Ser231Pro | |
| ENST00000379328.7:c.691T>C | ENSP00000368632.3:p.Ser231Pro | |
| ENST00000461472.1:n.356T>C | ||
| NM_001002295.1:c.691T>C | NP_001002295.1:p.Ser231Pro | |
| NM_002051.2:c.691T>C | NP_002042.1:p.Ser231Pro | |
| XM_005252442.2:c.691T>C | XP_005252499.1:p.Ser231Pro | |
| XM_005252443.3:c.691T>C | XP_005252500.1:p.Ser231Pro | |
| XM_005252443.5:c.691T>C | XP_005252500.1:p.Ser231Pro | |
| NM_001002295.2:c.691T>C MANE Select | NP_001002295.1:p.Ser231Pro | |
| NM_002051.3:c.691T>C | NP_002042.1:p.Ser231Pro |