Linked Data
ClinVar Variation Id:
1679892
ClinVar RCV Id:
RCV002227908
dbSNP Id:
rs2137123702
gnomAD v4:
12-101770171-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770171G>C , CM000674.2:g.101770171G>C | GRCh38 |
| NC_000012.11:g.102163949G>C , CM000674.1:g.102163949G>C | GRCh37 |
| NC_000012.10:g.100688080G>C | NCBI36 |
| NG_021243.1:g.65697C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1134C>G MANE Select | ENSP00000299314.7:p.Ser378Arg | |
| ENST00000299314.11:c.1134C>G | ENSP00000299314.7:p.Ser378Arg | |
| ENST00000549940.5:c.1134C>G | ENSP00000449150.1:p.Ser378Arg | |
| NM_024312.4:c.1134C>G | NP_077288.2:p.Ser378Arg | |
| XM_006719593.2:c.1134C>G | XP_006719656.1:p.Ser378Arg | |
| XM_011538731.1:c.1053C>G | XP_011537033.1:p.Ser351Arg | |
| XM_006719593.3:c.1134C>G | XP_006719656.1:p.Ser378Arg | |
| XM_011538731.2:c.1053C>G | XP_011537033.1:p.Ser351Arg | |
| XM_017019961.1:c.918C>G | XP_016875450.1:p.Ser306Arg | |
| XM_017019962.2:c.-94C>G | XP_016875451.1:n.-94C>G | |
| NM_024312.5:c.1134C>G MANE Select | NP_077288.2:p.Ser378Arg |