Linked Data
dbSNP Id:
rs1767207048
gnomAD v3:
6-31357234-G-T
gnomAD v4:
6-31357234-G-T
MyVariant Identifiers:
chr6:g.31325011G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357234G>T , CM000668.2:g.31357234G>T | GRCh38 |
| NC_000006.11:g.31325011G>T , CM000668.1:g.31325011G>T | GRCh37 |
| NC_000006.10:g.31432990G>T | NCBI36 |
| NG_023187.1:g.4979C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1398C>A | ||
| ENST00000481849.6:n.1398C>A | ||
| ENST00000497377.6:n.1398C>A | ||
| ENST00000696559.1:c.-76C>A | ENSP00000512717.1:n.-76C>A | |
| ENST00000696560.1:c.-76C>A | ENSP00000512718.1:n.-76C>A | |
| ENST00000696561.1:c.-76C>A | ENSP00000512719.1:n.-76C>A | |
| ENST00000696562.1:c.-76C>A | ENSP00000512720.1:n.-76C>A | |
| ENST00000603274.1:n.588G>T | ||
| NM_005514.7:c.-76C>A | NP_005505.2:n.-76C>A |