Linked Data
dbSNP Id:
rs534808921
ExAC:
11:17409514 C / A
gnomAD v2:
11-17409514-C-A
gnomAD v3:
11-17387967-C-A
gnomAD v4:
11-17387967-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387967C>A , CM000673.2:g.17387967C>A | GRCh38 |
| NC_000011.9:g.17409514C>A , CM000673.1:g.17409514C>A | GRCh37 |
| NC_000011.8:g.17366090C>A | NCBI36 |
| NG_012446.1:g.5693G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528992.2:c.-104G>T | ENSP00000436479.2:n.-104G>T | |
| ENST00000682350.1:c.-16-121G>T | ENSP00000508090.1:n.-16-121G>T | |
| ENST00000682764.1:c.-16-121G>T | ENSP00000506780.1:n.-16-121G>T | |
| ENST00000339994.5:c.125G>T MANE Select | ENSP00000345708.4:p.Cys42Phe | |
| ENST00000339994.4:c.125G>T | ENSP00000345708.4:p.Cys42Phe | |
| ENST00000526912.1:c.-17+51G>T | ENSP00000432729.1:n.-17+51G>T | |
| ENST00000528731.1:c.-16-121G>T | ENSP00000434755.1:n.-16-121G>T | |
| ENST00000528992.1:c.142G>T | ||
| NM_000525.3:c.125G>T | NP_000516.3:p.Cys42Phe | |
| NM_001166290.1:c.-16-121G>T | NP_001159762.1:n.-16-121G>T | |
| XM_006718226.2:c.-16-121G>T | XP_006718289.1:n.-16-121G>T | |
| XR_930867.1:n.283G>T | ||
| XM_006718226.3:c.-16-121G>T | XP_006718289.1:n.-16-121G>T | |
| XM_017017680.1:c.-16-121G>T | XP_016873169.1:n.-16-121G>T | |
| NM_001166290.2:c.-16-121G>T | NP_001159762.1:n.-16-121G>T | |
| NM_001377296.1:c.-17+51G>T | NP_001364225.1:n.-17+51G>T | |
| NM_001377297.1:c.-16-121G>T | NP_001364226.1:n.-16-121G>T | |
| NM_000525.4:c.125G>T MANE Select | NP_000516.3:p.Cys42Phe |