Linked Data
ClinVar Variation Id:
1157906
ClinVar RCV Id:
RCV001501136
dbSNP Id:
rs1388923497
gnomAD v4:
12-101786118-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786118T>C , CM000674.2:g.101786118T>C | GRCh38 |
| NC_000012.11:g.102179896T>C , CM000674.1:g.102179896T>C | GRCh37 |
| NC_000012.10:g.100704027T>C | NCBI36 |
| NG_021243.1:g.49750A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.465A>G MANE Select | ENSP00000299314.7:p.Pro155= | |
| ENST00000299314.11:c.465A>G | ENSP00000299314.7:p.Pro155= | |
| ENST00000549940.5:c.465A>G | ENSP00000449150.1:p.Pro155= | |
| ENST00000550352.1:n.259A>G | ||
| ENST00000552681.1:c.99A>G | ENSP00000449217.1:p.Pro33= | |
| NM_024312.4:c.465A>G | NP_077288.2:p.Pro155= | |
| XM_006719593.2:c.465A>G | XP_006719656.1:p.Pro155= | |
| XM_011538731.1:c.384A>G | XP_011537033.1:p.Pro128= | |
| XM_006719593.3:c.465A>G | XP_006719656.1:p.Pro155= | |
| XM_011538731.2:c.384A>G | XP_011537033.1:p.Pro128= | |
| XM_017019961.1:c.249A>G | XP_016875450.1:p.Pro83= | |
| XM_017019962.2:c.-886A>G | XP_016875451.1:n.-886A>G | |
| NM_024312.5:c.465A>G MANE Select | NP_077288.2:p.Pro155= |