Linked Data
dbSNP Id:
rs3819285
gnomAD v2:
6-31322742-G-T
gnomAD v3:
6-31354965-G-T
gnomAD v4:
6-31354965-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354965G>T , CM000668.2:g.31354965G>T | GRCh38 |
| NC_000006.11:g.31322742G>T , CM000668.1:g.31322742G>T | GRCh37 |
| NC_000006.10:g.31430721G>T | NCBI36 |
| NG_023187.1:g.7248C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.3059+142C>A | ||
| ENST00000481849.6:n.2720C>A | ||
| ENST00000497377.6:n.2627C>A | ||
| ENST00000640094.2:c.896-300C>A | ENSP00000491275.2:n.896-300C>A | |
| ENST00000696558.1:c.1081+142C>A | ENSP00000512716.1:n.1081+142C>A | |
| ENST00000696559.1:c.1012+142C>A | ENSP00000512717.1:n.1012+142C>A | |
| ENST00000696560.1:c.1012+142C>A | ENSP00000512718.1:n.1012+142C>A | |
| ENST00000696561.1:c.1012+142C>A | ENSP00000512719.1:n.1012+142C>A | |
| ENST00000696562.1:c.1012+142C>A | ENSP00000512720.1:n.1012+142C>A | |
| ENST00000412585.7:c.1012+142C>A MANE Select | ENSP00000399168.2:n.1012+142C>A | |
| ENST00000640094.1:c.89-300C>A | ENSP00000491275.1:n.89-300C>A | |
| ENST00000412585.6:c.1012+142C>A | ENSP00000399168.2:n.1012+142C>A | |
| ENST00000497377.5:n.112C>A | ||
| NM_005514.6:c.1012+142C>A | NP_005505.2:n.1012+142C>A | |
| XM_011514556.1:c.1045+142C>A | XP_011512858.1:n.1045+142C>A | |
| XM_011514557.1:c.896-300C>A | XP_011512859.1:n.896-300C>A | |
| XR_926175.1:n.1451+142C>A | ||
| NM_005514.7:c.1012+142C>A | NP_005505.2:n.1012+142C>A | |
| NM_005514.8:c.1012+142C>A MANE Select | NP_005505.2:n.1012+142C>A |