Linked Data
dbSNP Id:
rs1052946812
gnomAD v2:
6-25869397-G-A
gnomAD v3:
6-25869169-G-A
gnomAD v4:
6-25869169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25869169G>A , CM000668.2:g.25869169G>A | GRCh38 |
| NC_000006.11:g.25869397G>A , CM000668.1:g.25869397G>A | GRCh37 |
| NC_000006.10:g.25977376G>A | NCBI36 |
| NG_032922.1:g.10075C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360657.7:c.-33-749C>T | ENSP00000353873.3:n.-33-749C>T | |
| ENST00000361703.10:c.-33-749C>T | ENSP00000355307.6:n.-33-749C>T | |
| ENST00000397060.8:c.-33-749C>T MANE Select | ENSP00000380250.4:n.-33-749C>T | |
| ENST00000503922.5:n.73-749C>T | ||
| ENST00000506105.5:c.-33-749C>T | ENSP00000424729.1:n.-33-749C>T | |
| NM_001098486.1:c.-33-749C>T | NP_001091956.1:n.-33-749C>T | |
| NM_006632.3:c.-33-749C>T | NP_006623.2:n.-33-749C>T | |
| NM_001098486.2:c.-33-749C>T MANE Select | NP_001091956.1:n.-33-749C>T | |
| NM_006632.4:c.-33-749C>T | NP_006623.2:n.-33-749C>T |