dbSNP:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88169725T>G , CM000666.2:g.88169725T>G | GRCh38 |
| NC_000004.11:g.89090877T>G , CM000666.1:g.89090877T>G | GRCh37 |
| NC_000004.10:g.89309901T>G | NCBI36 |
| NG_032067.2:g.66598A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650821.1:c.-19-29711A>C | ENSP00000498246.1:n.-19-29711A>C | |
| ENST00000515655.5:c.-19-29711A>C | ENSP00000426917.1:n.-19-29711A>C | |
| NM_001257386.1:c.-19-29711A>C | NP_001244315.1:n.-19-29711A>C | |
| XM_005263355.2:c.-19-29711A>C | XP_005263412.1:n.-19-29711A>C | |
| XM_011532420.1:c.-19-29711A>C | XP_011530722.1:n.-19-29711A>C | |
| NM_001257386.2:c.-19-29711A>C | NP_001244315.1:n.-19-29711A>C | |
| NM_001348985.1:c.-19-29711A>C | NP_001335914.1:n.-19-29711A>C | |
| XM_005263355.4:c.-19-29711A>C | XP_005263412.1:n.-19-29711A>C | |
| XM_011532420.3:c.-19-29711A>C | XP_011530722.1:n.-19-29711A>C |