Linked Data
dbSNP Id:
rs207959
gnomAD v2:
15-92655262-T-C
gnomAD v3:
15-92112032-T-C
gnomAD v4:
15-92112032-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.92112032T>C , CM000677.2:g.92112032T>C | GRCh38 |
| NC_000015.9:g.92655262T>C , CM000677.1:g.92655262T>C | GRCh37 |
| NC_000015.8:g.90456266T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318445.11:c.1009+7490T>C MANE Select | ENSP00000320634.6:n.1009+7490T>C | |
| ENST00000318445.10:c.1009+7490T>C | ENSP00000320634.6:n.1009+7490T>C | |
| ENST00000424469.2:c.1009+7490T>C | ENSP00000387846.2:n.1009+7490T>C | |
| ENST00000553653.5:n.1195+7490T>C | ||
| ENST00000555549.5:n.557+7490T>C | ||
| ENST00000555769.5:n.904+7490T>C | ||
| NM_001145044.1:c.1009+7490T>C | NP_001138516.1:n.1009+7490T>C | |
| NM_013272.3:c.1009+7490T>C | NP_037404.2:n.1009+7490T>C | |
| XM_005254889.1:c.1009+7490T>C | XP_005254946.1:n.1009+7490T>C | |
| XM_005254891.1:c.664+7490T>C | XP_005254948.1:n.664+7490T>C | |
| XM_011521456.1:c.835+7490T>C | XP_011519758.1:n.835+7490T>C | |
| XM_011521457.1:c.1009+7490T>C | XP_011519759.1:n.1009+7490T>C | |
| XR_429450.2:n.929+7490T>C | ||
| XR_931795.1:n.1099+7490T>C | ||
| XR_931796.1:n.1099+7490T>C | ||
| NR_135775.1:n.940+7490T>C | ||
| XM_005254891.3:c.664+7490T>C | XP_005254948.1:n.664+7490T>C | |
| XM_011521456.2:c.835+7490T>C | XP_011519758.1:n.835+7490T>C | |
| XR_931796.2:n.1099+7490T>C | ||
| NM_013272.4:c.1009+7490T>C MANE Select | NP_037404.2:n.1009+7490T>C | |
| NR_135775.2:n.936+7490T>C |