Linked Data
ClinVar Variation Id:
129877
dbSNP Id:
rs327517
ExAC:
7:127253829 T / C
gnomAD v2:
7-127253829-T-C
gnomAD v3:
7-127613775-T-C
gnomAD v4:
7-127613775-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127613775T>C , CM000669.2:g.127613775T>C | GRCh38 |
| NC_000007.13:g.127253829T>C , CM000669.1:g.127253829T>C | GRCh37 |
| NC_000007.12:g.127041065T>C | NCBI36 |
| NG_012848.1:g.6952A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639438.3:c.543A>G MANE Select | ENSP00000491782.1:p.Gln181= | |
| ENST00000338516.7:c.543A>G | ENSP00000344297.4:p.Gln181= | |
| ENST00000341640.6:c.519A>G | ENSP00000339906.2:p.Gln173= | |
| ENST00000378740.6:c.519A>G | ENSP00000368014.3:p.Gln173= | |
| ENST00000463946.5:c.513A>G | ENSP00000451923.1:p.Gln171= | |
| ENST00000477423.1:n.513A>G | ||
| ENST00000483494.5:c.513A>G | ENSP00000473846.1:p.Gln171= | |
| ENST00000611453.1:c.513A>G | ENSP00000477877.1:p.Gln171= | |
| NM_006193.2:c.519A>G | NP_006184.2:p.Gln173= | |
| XM_011516276.1:c.543A>G | XP_011514578.1:p.Gln181= | |
| NM_001366110.1:c.543A>G MANE Select | NP_001353039.1:p.Gln181= | |
| NM_001366111.1:c.543A>G | NP_001353040.1:p.Gln181= |