Linked Data
dbSNP Id:
rs759015499
ExAC:
15:28386882 C / A
gnomAD v2:
15-28386882-C-A
gnomAD v4:
15-28141736-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28141736C>A , CM000677.2:g.28141736C>A | GRCh38 |
| NC_000015.9:g.28386882C>A , CM000677.1:g.28386882C>A | GRCh37 |
| NC_000015.8:g.26060477C>A | NCBI36 |
| NG_016355.1:g.185414G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.11811G>T MANE Select | ENSP00000261609.8:p.Met3937Ile | |
| ENST00000650509.1:c.3522G>T | ENSP00000496936.1:p.Met1174Ile | |
| ENST00000261609.11:c.11811G>T | ENSP00000261609.7:p.Met3937Ile | |
| NM_004667.5:c.11811G>T | NP_004658.3:p.Met3937Ile | |
| XM_005268276.3:c.11697G>T | XP_005268333.1:p.Met3899Ile | |
| XM_005268277.3:c.11697G>T | XP_005268334.1:p.Met3899Ile | |
| XM_006720726.2:c.11796G>T | XP_006720789.1:p.Met3932Ile | |
| XM_006720727.2:c.11553G>T | XP_006720790.1:p.Met3851Ile | |
| XM_011522131.1:c.11328G>T | XP_011520433.1:p.Met3776Ile | |
| XM_011522132.1:c.9327G>T | XP_011520434.1:p.Met3109Ile | |
| XM_011522133.1:c.8556G>T | XP_011520435.1:p.Met2852Ile | |
| XM_011522134.1:c.5928G>T | XP_011520436.1:p.Met1976Ile | |
| XM_005268276.5:c.11697G>T | XP_005268333.1:p.Met3899Ile | |
| XM_006720726.3:c.11796G>T | XP_006720789.1:p.Met3932Ile | |
| XM_006720727.3:c.11553G>T | XP_006720790.1:p.Met3851Ile | |
| XM_017022695.1:c.11697G>T | XP_016878184.1:p.Met3899Ile | |
| XM_017022696.1:c.11697G>T | XP_016878185.1:p.Met3899Ile | |
| XM_017022697.1:c.4977G>T | XP_016878186.1:p.Met1659Ile | |
| XM_017022698.1:c.4977G>T | XP_016878187.1:p.Met1659Ile | |
| NM_004667.6:c.11811G>T MANE Select | NP_004658.3:p.Met3937Ile |