Linked Data
ClinVar Variation Id:
17740
ClinVar RCV Id:
RCV000019314
dbSNP Id:
rs104894481
gnomAD v2:
15-45003775-G-C
gnomAD v4:
15-44711577-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711577G>C , CM000677.2:g.44711577G>C | GRCh38 |
| NC_000015.9:g.45003775G>C , CM000677.1:g.45003775G>C | GRCh37 |
| NC_000015.8:g.42791067G>C | NCBI36 |
| NG_012920.1:g.5091G>C | |
| NG_012920.2:g.5101G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695792.1:n.83+137G>C | ||
| ENST00000648006.3:c.31G>C MANE Select | ENSP00000497910.1:p.Ala11Pro | |
| ENST00000349264.10:c.31G>C | ENSP00000340858.6:p.Ala11Pro | |
| ENST00000544417.5:c.31G>C | ENSP00000437604.2:p.Ala11Pro | |
| ENST00000557901.5:c.31G>C | ENSP00000452861.1:p.Ala11Pro | |
| ENST00000558401.5:c.31G>C | ENSP00000452780.1:p.Ala11Pro | |
| ENST00000559720.5:n.91G>C | ||
| ENST00000559916.1:c.31G>C | ENSP00000453350.1:p.Ala11Pro | |
| ENST00000561424.5:c.31G>C | ENSP00000453191.1:p.Ala11Pro | |
| NM_004048.2:c.31G>C | NP_004039.1:p.Ala11Pro | |
| XM_005254549.2:c.31G>C | XP_005254606.1:p.Ala11Pro | |
| NM_004048.3:c.31G>C | NP_004039.1:p.Ala11Pro | |
| XM_005254549.3:c.31G>C | XP_005254606.1:p.Ala11Pro | |
| XR_002957658.1:n.86G>C | ||
| NM_004048.4:c.31G>C MANE Select | NP_004039.1:p.Ala11Pro |