Linked Data
dbSNP Id:
rs2377339
gnomAD v2:
2-106457291-A-G
gnomAD v3:
2-105840835-A-G
gnomAD v4:
2-105840835-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.105840835A>G , CM000664.2:g.105840835A>G | GRCh38 |
| NC_000002.11:g.106457291A>G , CM000664.1:g.106457291A>G | GRCh37 |
| NC_000002.10:g.105823723A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233154.9:c.-16-14213A>G MANE Select | ENSP00000233154.4:n.-16-14213A>G | |
| ENST00000233154.8:c.-16-14213A>G | ENSP00000233154.4:n.-16-14213A>G | |
| ENST00000393348.6:c.-16-14213A>G | ENSP00000377017.2:n.-16-14213A>G | |
| ENST00000451463.6:c.-16-14213A>G | ENSP00000410428.2:n.-16-14213A>G | |
| ENST00000522586.5:c.-13-14216A>G | ENSP00000431109.1:n.-13-14216A>G | |
| NM_001004722.3:c.-16-14213A>G | NP_001004722.1:n.-16-14213A>G | |
| NM_003581.4:c.-16-14213A>G | NP_003572.2:n.-16-14213A>G | |
| XM_006712797.2:c.-16-14213A>G | XP_006712860.1:n.-16-14213A>G | |
| XM_011511991.1:c.-13-14216A>G | XP_011510293.1:n.-13-14216A>G | |
| XM_006712797.3:c.-16-14213A>G | XP_006712860.1:n.-16-14213A>G | |
| XM_011511991.3:c.-13-14216A>G | XP_011510293.1:n.-13-14216A>G | |
| XM_017005103.1:c.-16-14213A>G | XP_016860592.1:n.-16-14213A>G | |
| XM_017005104.1:c.-16-14213A>G | XP_016860593.1:n.-16-14213A>G | |
| XM_017005105.1:c.-16-14213A>G | XP_016860594.1:n.-16-14213A>G | |
| NM_003581.5:c.-16-14213A>G MANE Select | NP_003572.2:n.-16-14213A>G | |
| NM_001004722.4:c.-16-14213A>G | NP_001004722.1:n.-16-14213A>G |