Linked Data
ClinVar Variation Id:
1677312
ClinVar RCV Id:
RCV002223346
dbSNP Id:
rs1317870927
gnomAD v2:
14-50597253-A-C
gnomAD v4:
14-50130535-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130535A>C , CM000676.2:g.50130535A>C | GRCh38 |
| NC_000014.8:g.50597253A>C , CM000676.1:g.50597253A>C | GRCh37 |
| NC_000014.7:g.49667003A>C | NCBI36 |
| NG_051073.1:g.106159T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3303T>G MANE Select | ENSP00000216373.5:p.Ser1101Arg | |
| ENST00000216373.9:c.3303T>G | ENSP00000216373.5:p.Ser1101Arg | |
| ENST00000543680.5:c.3204T>G | ENSP00000445328.1:p.Ser1068Arg | |
| NM_006939.2:c.3303T>G | NP_008870.2:p.Ser1101Arg | |
| XM_005268021.1:c.3123T>G | XP_005268078.1:p.Ser1041Arg | |
| XM_011537103.1:c.3264T>G | XP_011535405.1:p.Ser1088Arg | |
| NM_006939.3:c.3303T>G | NP_008870.2:p.Ser1101Arg | |
| NM_006939.4:c.3303T>G MANE Select | NP_008870.2:p.Ser1101Arg |