Linked Data
dbSNP Id:
rs16957063
ExAC:
15:42984288 A / G
gnomAD v2:
15-42984288-A-G
gnomAD v3:
15-42692090-A-G
gnomAD v4:
15-42692090-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42692090A>G , CM000677.2:g.42692090A>G | GRCh38 |
| NC_000015.9:g.42984288A>G , CM000677.1:g.42984288A>G | GRCh37 |
| NC_000015.8:g.40771580A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290607.12:c.10512A>G MANE Select | ENSP00000290607.7:p.Thr3504= | |
| ENST00000290607.11:c.10512A>G | ENSP00000290607.7:p.Thr3504= | |
| ENST00000562619.1:c.2496A>G | ENSP00000454648.1:p.Thr832= | |
| NM_020759.2:c.10512A>G | NP_065810.2:p.Thr3504= | |
| XM_011521831.1:c.10512A>G | XP_011520133.1:p.Thr3504= | |
| XM_011521832.1:c.10509A>G | XP_011520134.1:p.Thr3503= | |
| XM_011521833.1:c.10479A>G | XP_011520135.1:p.Thr3493= | |
| XM_011521834.1:c.10449A>G | XP_011520136.1:p.Thr3483= | |
| XM_011521835.1:c.10371A>G | XP_011520137.1:p.Thr3457= | |
| XM_011521836.1:c.10350A>G | XP_011520138.1:p.Thr3450= | |
| XM_011521837.1:c.10260A>G | XP_011520139.1:p.Thr3420= | |
| XM_011521838.1:c.9798A>G | XP_011520140.1:p.Thr3266= | |
| XM_011521839.1:c.7992A>G | XP_011520141.1:p.Thr2664= | |
| XR_931874.1:n.10594A>G | ||
| XM_011521831.3:c.10512A>G | XP_011520133.1:p.Thr3504= | |
| XM_011521832.2:c.10509A>G | XP_011520134.1:p.Thr3503= | |
| XM_011521833.2:c.10479A>G | XP_011520135.1:p.Thr3493= | |
| XM_011521834.3:c.10449A>G | XP_011520136.1:p.Thr3483= | |
| XM_011521835.3:c.10371A>G | XP_011520137.1:p.Thr3457= | |
| XM_011521836.2:c.10350A>G | XP_011520138.1:p.Thr3450= | |
| XM_011521837.3:c.10260A>G | XP_011520139.1:p.Thr3420= | |
| XM_011521839.3:c.7992A>G | XP_011520141.1:p.Thr2664= | |
| XM_017022439.2:c.10434A>G | XP_016877928.1:p.Thr3478= | |
| XM_017022440.1:c.10350A>G | XP_016877929.1:p.Thr3450= | |
| XM_017022441.2:c.10293A>G | XP_016877930.1:p.Thr3431= | |
| XM_017022442.1:c.9798A>G | XP_016877931.1:p.Thr3266= | |
| XM_017022443.1:c.9798A>G | XP_016877932.1:p.Thr3266= | |
| XR_931874.3:n.10618A>G | ||
| NM_020759.3:c.10512A>G MANE Select | NP_065810.2:p.Thr3504= |