Linked Data
dbSNP Id:
rs771918262
gnomAD v2:
12-102179801-C-G
gnomAD v3:
12-101786023-C-G
gnomAD v4:
12-101786023-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786023C>G , CM000674.2:g.101786023C>G | GRCh38 |
| NC_000012.11:g.102179801C>G , CM000674.1:g.102179801C>G | GRCh37 |
| NC_000012.10:g.100703932C>G | NCBI36 |
| NG_021243.1:g.49845G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.560G>C MANE Select | ENSP00000299314.7:p.Ser187Thr | |
| ENST00000299314.11:c.560G>C | ENSP00000299314.7:p.Ser187Thr | |
| ENST00000549940.5:c.560G>C | ENSP00000449150.1:p.Ser187Thr | |
| ENST00000550352.1:n.354G>C | ||
| ENST00000552681.1:c.194G>C | ENSP00000449217.1:p.Ser65Thr | |
| NM_024312.4:c.560G>C | NP_077288.2:p.Ser187Thr | |
| XM_006719593.2:c.560G>C | XP_006719656.1:p.Ser187Thr | |
| XM_011538731.1:c.479G>C | XP_011537033.1:p.Ser160Thr | |
| XM_006719593.3:c.560G>C | XP_006719656.1:p.Ser187Thr | |
| XM_011538731.2:c.479G>C | XP_011537033.1:p.Ser160Thr | |
| XM_017019961.1:c.344G>C | XP_016875450.1:p.Ser115Thr | |
| XM_017019962.2:c.-791G>C | XP_016875451.1:n.-791G>C | |
| NM_024312.5:c.560G>C MANE Select | NP_077288.2:p.Ser187Thr |