Linked Data
dbSNP Id:
rs780663699
ExAC:
6:49586921 C / T
gnomAD v2:
6-49586921-C-T
gnomAD v3:
6-49619208-C-T
gnomAD v4:
6-49619208-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49619208C>T , CM000668.2:g.49619208C>T | GRCh38 |
| NC_000006.11:g.49586921C>T , CM000668.1:g.49586921C>T | GRCh37 |
| NC_000006.10:g.49694880C>T | NCBI36 |
| NG_011704.1:g.22667G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371175.10:c.312G>A MANE Select | ENSP00000360217.4:p.Gln104= | |
| ENST00000642530.1:n.587G>A | ||
| ENST00000646272.1:c.312G>A | ENSP00000494337.1:p.Gln104= | |
| ENST00000646939.1:c.312G>A | ENSP00000494709.1:p.Gln104= | |
| ENST00000646963.1:c.312G>A | ENSP00000495337.1:p.Gln104= | |
| ENST00000229810.9:c.312G>A | ENSP00000229810.8:p.Gln104= | |
| ENST00000371175.8:c.312G>A | ENSP00000360217.4:p.Gln104= | |
| ENST00000618248.3:c.312G>A | ENSP00000482984.1:p.Gln104= | |
| NM_000324.2:c.312G>A | NP_000315.2:p.Gln104= | |
| XM_011514788.1:c.312G>A | XP_011513090.1:p.Gln104= | |
| NM_000324.3:c.312G>A MANE Select | NP_000315.2:p.Gln104= |