Linked Data
ClinVar Variation Id:
402972
dbSNP Id:
rs393548
ExAC:
19:18197744 T / A
gnomAD v2:
19-18197744-T-A
gnomAD v3:
19-18086934-T-A
gnomAD v4:
19-18086934-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18086934T>A , CM000681.2:g.18086934T>A | GRCh38 |
| NC_000019.9:g.18197744T>A , CM000681.1:g.18197744T>A | GRCh37 |
| NC_000019.8:g.18058744T>A | NCBI36 |
| NG_007366.2:g.17016A>T , LRG_72:g.17016A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.-111A>T MANE Select | ENSP00000472165.2:n.-111A>T | |
| ENST00000430026.7:c.-111A>T | ENSP00000403103.3:n.-111A>T | |
| ENST00000593993.6:c.-111A>T | ENSP00000472165.2:n.-111A>T | |
| ENST00000594176.1:c.-109-2A>T | ENSP00000473051.1:n.-109-2A>T | |
| ENST00000598019.6:c.-109-2A>T | ENSP00000468831.2:n.-109-2A>T | |
| ENST00000600835.6:c.-109-2A>T | ENSP00000470788.1:n.-109-2A>T | |
| NM_001290023.1:c.-111A>T | NP_001276952.1:n.-111A>T | |
| NM_001290024.1:c.12-2A>T | NP_001276953.1:n.12-2A>T | |
| NM_005535.2:c.-111A>T | NP_005526.1:n.-111A>T | |
| NM_153701.2:c.-111A>T | NP_714912.1:n.-111A>T | |
| XM_006722741.2:c.12-2A>T | XP_006722804.2:n.12-2A>T | |
| XM_011527966.1:c.12-2A>T | XP_011526268.1:n.12-2A>T | |
| XM_011527967.1:c.12-2A>T | XP_011526269.1:n.12-2A>T | |
| XM_011527968.1:c.12-2A>T | XP_011526270.1:n.12-2A>T | |
| XM_011527969.1:c.12-2A>T | XP_011526271.1:n.12-2A>T | |
| XM_011527970.1:c.12-2A>T | XP_011526272.1:n.12-2A>T | |
| XM_011527971.1:c.12-2A>T | XP_011526273.1:n.12-2A>T | |
| XM_011527972.1:c.12-2A>T | XP_011526274.1:n.12-2A>T | |
| XM_011527973.1:c.-111A>T | XP_011526275.1:n.-111A>T | |
| XM_011527974.1:c.-111A>T | XP_011526276.1:n.-111A>T | |
| XM_011527975.1:c.12-2A>T | XP_011526277.1:n.12-2A>T | |
| XM_011527976.1:c.12-2A>T | XP_011526278.1:n.12-2A>T | |
| XM_011527977.1:c.12-2A>T | XP_011526279.1:n.12-2A>T | |
| XM_006722741.3:c.12-2A>T | XP_006722804.2:n.12-2A>T | |
| XM_011527966.2:c.12-2A>T | XP_011526268.1:n.12-2A>T | |
| XM_011527967.2:c.12-2A>T | XP_011526269.1:n.12-2A>T | |
| XM_011527968.3:c.12-2A>T | XP_011526270.1:n.12-2A>T | |
| XM_011527969.2:c.12-2A>T | XP_011526271.1:n.12-2A>T | |
| XM_011527970.2:c.12-2A>T | XP_011526272.1:n.12-2A>T | |
| XM_011527971.3:c.12-2A>T | XP_011526273.1:n.12-2A>T | |
| XM_011527972.3:c.12-2A>T | XP_011526274.1:n.12-2A>T | |
| XM_011527973.2:c.-111A>T | XP_011526275.1:n.-111A>T | |
| XM_011527974.2:c.-111A>T | XP_011526276.1:n.-111A>T | |
| XM_011527975.2:c.12-2A>T | XP_011526277.1:n.12-2A>T | |
| XM_011527976.2:c.12-2A>T | XP_011526278.1:n.12-2A>T | |
| XM_011527977.2:c.12-2A>T | XP_011526279.1:n.12-2A>T | |
| NM_001290023.2:c.-111A>T | NP_001276952.1:n.-111A>T | |
| NM_005535.3:c.-111A>T MANE Select | NP_005526.1:n.-111A>T | |
| NM_153701.3:c.-111A>T | NP_714912.1:n.-111A>T |