Linked Data
dbSNP Id:
rs8112236
ExAC:
19:6670094 G / A
gnomAD v2:
19-6670094-G-A
gnomAD v3:
19-6670083-G-A
gnomAD v4:
19-6670083-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6670083G>A , CM000681.2:g.6670083G>A | GRCh38 |
| NC_000019.9:g.6670094G>A , CM000681.1:g.6670094G>A | GRCh37 |
| NC_000019.8:g.6621094G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675206.1:c.-14C>T MANE Select | ENSP00000502837.1:n.-14C>T | |
| ENST00000245912.7:c.-14C>T | ENSP00000245912.3:n.-14C>T | |
| ENST00000599359.1:c.-14C>T | ENSP00000469049.1:n.-14C>T | |
| NM_003807.3:c.-14C>T | NP_003798.2:n.-14C>T | |
| NM_172014.2:c.-14C>T | NP_742011.2:n.-14C>T | |
| XM_005259670.2:c.-14C>T | XP_005259727.1:n.-14C>T | |
| XM_011528398.1:c.-14C>T | XP_011526700.1:n.-14C>T | |
| XR_936212.1:n.501C>T | ||
| NM_003807.4:c.-14C>T | NP_003798.2:n.-14C>T | |
| NM_172014.3:c.-14C>T | NP_742011.2:n.-14C>T | |
| XM_017027417.1:c.-14C>T | XP_016882906.1:n.-14C>T | |
| XM_017027418.1:c.-14C>T | XP_016882907.1:n.-14C>T | |
| XR_001753777.1:n.513C>T | ||
| XR_936212.2:n.513C>T | ||
| NM_001376887.1:c.-14C>T MANE Select | NP_001363816.1:n.-14C>T | |
| NM_003807.5:c.-14C>T | NP_003798.2:n.-14C>T |