Linked Data
dbSNP Id:
rs12350051
gnomAD v2:
9-20475176-T-C
gnomAD v3:
9-20475178-T-C
gnomAD v4:
9-20475178-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.20475178T>C , CM000671.2:g.20475178T>C | GRCh38 |
| NC_000009.11:g.20475176T>C , CM000671.1:g.20475176T>C | GRCh37 |
| NC_000009.10:g.20465176T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380338.9:c.194-18392A>G MANE Select | ENSP00000369695.4:n.194-18392A>G | |
| ENST00000380338.8:c.194-18392A>G | ENSP00000369695.4:n.194-18392A>G | |
| ENST00000475957.1:n.378-60753A>G | ||
| ENST00000629733.2:c.-1025-18392A>G | ENSP00000486193.1:n.-1025-18392A>G | |
| ENST00000630269.2:c.185-18392A>G | ENSP00000485996.1:n.185-18392A>G | |
| NM_001286691.1:c.185-18392A>G | NP_001273620.1:n.185-18392A>G | |
| NM_004529.3:c.194-18392A>G | NP_004520.2:n.194-18392A>G | |
| XM_017014726.2:c.194-18392A>G | XP_016870215.1:n.194-18392A>G | |
| XM_017014727.1:c.185-18392A>G | XP_016870216.1:n.185-18392A>G | |
| NM_004529.4:c.194-18392A>G MANE Select | NP_004520.2:n.194-18392A>G | |
| NM_001286691.2:c.185-18392A>G | NP_001273620.1:n.185-18392A>G |