Linked Data
dbSNP Id:
rs2086865732
gnomAD v3:
15-44711566-T-C
gnomAD v4:
15-44711566-T-C
COSMIC:
COSM144524
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711566T>C , CM000677.2:g.44711566T>C | GRCh38 |
| NC_000015.9:g.45003764T>C , CM000677.1:g.45003764T>C | GRCh37 |
| NC_000015.8:g.42791056T>C | NCBI36 |
| NG_012920.1:g.5080T>C | |
| NG_012920.2:g.5090T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+126T>C | ||
| ENST00000648006.3:c.20T>C MANE Select | ENSP00000497910.1:p.Leu7Ser | |
| ENST00000349264.10:c.20T>C | ENSP00000340858.6:p.Leu7Ser | |
| ENST00000544417.5:c.20T>C | ENSP00000437604.2:p.Leu7Ser | |
| ENST00000557901.5:c.20T>C | ENSP00000452861.1:p.Leu7Ser | |
| ENST00000558401.5:c.20T>C | ENSP00000452780.1:p.Leu7Ser | |
| ENST00000559720.5:n.80T>C | ||
| ENST00000559916.1:c.20T>C | ENSP00000453350.1:p.Leu7Ser | |
| ENST00000561424.5:c.20T>C | ENSP00000453191.1:p.Leu7Ser | |
| NM_004048.2:c.20T>C | NP_004039.1:p.Leu7Ser | |
| XM_005254549.2:c.20T>C | XP_005254606.1:p.Leu7Ser | |
| NM_004048.3:c.20T>C | NP_004039.1:p.Leu7Ser | |
| XM_005254549.3:c.20T>C | XP_005254606.1:p.Leu7Ser | |
| XR_002957658.1:n.75T>C | ||
| NM_004048.4:c.20T>C MANE Select | NP_004039.1:p.Leu7Ser |