Linked Data
dbSNP Id:
rs1017836552
gnomAD v2:
1-76692518-C-T
gnomAD v3:
1-76226833-C-T
gnomAD v4:
1-76226833-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.76226833C>T , CM000663.2:g.76226833C>T | GRCh38 |
| NC_000001.10:g.76692518C>T , CM000663.1:g.76692518C>T | GRCh37 |
| NC_000001.9:g.76465106C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328299.4:c.19-86972C>T MANE Select | ENSP00000329214.3:n.19-86972C>T | |
| ENST00000328299.3:c.19-86972C>T | ENSP00000329214.3:n.19-86972C>T | |
| NM_001160011.1:c.19-86972C>T | NP_001153483.1:n.19-86972C>T | |
| NM_152996.2:c.19-86972C>T | NP_694541.2:n.19-86972C>T | |
| XM_006710553.2:c.-53-82673C>T | XP_006710616.1:n.-53-82673C>T | |
| NM_001160011.2:c.19-86972C>T | NP_001153483.1:n.19-86972C>T | |
| NM_001349105.1:c.18+151949C>T | NP_001336034.1:n.18+151949C>T | |
| NM_001349106.1:c.-485-82673C>T | NP_001336035.1:n.-485-82673C>T | |
| NM_001349107.1:c.19-86972C>T | NP_001336036.1:n.19-86972C>T | |
| NM_001349108.1:c.18+151949C>T | NP_001336037.1:n.18+151949C>T | |
| NM_001349109.1:c.19-86972C>T | NP_001336038.1:n.19-86972C>T | |
| NM_001349110.1:c.19-86972C>T | NP_001336039.1:n.19-86972C>T | |
| NM_001349111.1:c.-53-82673C>T | NP_001336040.1:n.-53-82673C>T | |
| NM_152996.3:c.19-86972C>T | NP_694541.2:n.19-86972C>T | |
| NR_146056.1:n.202-86972C>T | ||
| XR_001737094.2:n.152-86972C>T | ||
| NM_152996.4:c.19-86972C>T MANE Select | NP_694541.2:n.19-86972C>T | |
| NM_001160011.3:c.19-86972C>T | NP_001153483.1:n.19-86972C>T | |
| NM_001349105.2:c.18+151949C>T | NP_001336034.1:n.18+151949C>T | |
| NM_001349106.2:c.-485-82673C>T | NP_001336035.1:n.-485-82673C>T | |
| NM_001349107.2:c.19-86972C>T | NP_001336036.1:n.19-86972C>T | |
| NM_001349108.2:c.18+151949C>T | NP_001336037.1:n.18+151949C>T | |
| NM_001349109.2:c.19-86972C>T | NP_001336038.1:n.19-86972C>T | |
| NM_001349110.2:c.19-86972C>T | NP_001336039.1:n.19-86972C>T | |
| NM_001349111.2:c.-53-82673C>T | NP_001336040.1:n.-53-82673C>T | |
| NR_146056.2:n.140-86972C>T | ||
| NM_001349109.3:c.19-86972C>T | NP_001336038.1:n.19-86972C>T |