Linked Data
dbSNP Id:
rs12144344
gnomAD v2:
1-76839536-C-T
gnomAD v3:
1-76373851-C-T
gnomAD v4:
1-76373851-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.76373851C>T , CM000663.2:g.76373851C>T | GRCh38 |
| NC_000001.10:g.76839536C>T , CM000663.1:g.76839536C>T | GRCh37 |
| NC_000001.9:g.76612124C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328299.4:c.214-38157C>T MANE Select | ENSP00000329214.3:n.214-38157C>T | |
| ENST00000328299.3:c.214-38157C>T | ENSP00000329214.3:n.214-38157C>T | |
| ENST00000464140.1:n.88-38157C>T | ||
| ENST00000621530.1:c.1-38157C>T | ENSP00000480283.1:n.1-38157C>T | |
| NM_001160011.1:c.214-38157C>T | NP_001153483.1:n.214-38157C>T | |
| NM_152996.2:c.214-38157C>T | NP_694541.2:n.214-38157C>T | |
| XM_006710553.2:c.250-38157C>T | XP_006710616.1:n.250-38157C>T | |
| NM_001160011.2:c.214-38157C>T | NP_001153483.1:n.214-38157C>T | |
| NM_001349105.1:c.19-38157C>T | NP_001336034.1:n.19-38157C>T | |
| NM_001349106.1:c.-51-38157C>T | NP_001336035.1:n.-51-38157C>T | |
| NM_001349107.1:c.214-38157C>T | NP_001336036.1:n.214-38157C>T | |
| NM_001349108.1:c.19-38157C>T | NP_001336037.1:n.19-38157C>T | |
| NM_001349109.1:c.214-38157C>T | NP_001336038.1:n.214-38157C>T | |
| NM_001349110.1:c.214-38157C>T | NP_001336039.1:n.214-38157C>T | |
| NM_001349111.1:c.250-38157C>T | NP_001336040.1:n.250-38157C>T | |
| NM_152996.3:c.214-38157C>T | NP_694541.2:n.214-38157C>T | |
| NR_146056.1:n.397-38157C>T | ||
| XM_017000937.2:c.268-38157C>T | XP_016856426.1:n.268-38157C>T | |
| XM_017000938.1:c.268-38157C>T | XP_016856427.1:n.268-38157C>T | |
| XM_017000939.1:c.268-38157C>T | XP_016856428.1:n.268-38157C>T | |
| XM_017000941.2:c.-51-38157C>T | XP_016856430.1:n.-51-38157C>T | |
| XM_017000942.2:c.-51-38157C>T | XP_016856431.1:n.-51-38157C>T | |
| XR_001737094.2:n.347-38157C>T | ||
| NM_152996.4:c.214-38157C>T MANE Select | NP_694541.2:n.214-38157C>T | |
| NM_001160011.3:c.214-38157C>T | NP_001153483.1:n.214-38157C>T | |
| NM_001349105.2:c.19-38157C>T | NP_001336034.1:n.19-38157C>T | |
| NM_001349106.2:c.-51-38157C>T | NP_001336035.1:n.-51-38157C>T | |
| NM_001349107.2:c.214-38157C>T | NP_001336036.1:n.214-38157C>T | |
| NM_001349108.2:c.19-38157C>T | NP_001336037.1:n.19-38157C>T | |
| NM_001349109.2:c.214-38157C>T | NP_001336038.1:n.214-38157C>T | |
| NM_001349110.2:c.214-38157C>T | NP_001336039.1:n.214-38157C>T | |
| NM_001349111.2:c.250-38157C>T | NP_001336040.1:n.250-38157C>T | |
| NR_146056.2:n.335-38157C>T | ||
| NM_001349109.3:c.214-38157C>T | NP_001336038.1:n.214-38157C>T |