Linked Data
dbSNP Id:
rs771394080
ExAC:
5:34998808 T / C
gnomAD v2:
5-34998808-T-C
gnomAD v4:
5-34998703-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34998703T>C , CM000667.2:g.34998703T>C | GRCh38 |
| NC_000005.9:g.34998808T>C , CM000667.1:g.34998808T>C | GRCh37 |
| NC_000005.8:g.35034565T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231420.11:c.*16A>G MANE Select | ENSP00000231420.6:n.*16A>G | |
| ENST00000231420.10:c.*16A>G | ENSP00000231420.6:n.*16A>G | |
| ENST00000510428.1:c.*16A>G | ENSP00000422799.1:n.*16A>G | |
| ENST00000512135.5:n.1231A>G | ||
| ENST00000618015.4:c.*16A>G | ENSP00000479154.1:n.*16A>G | |
| NM_001306173.1:c.*16A>G | NP_001293102.1:n.*16A>G | |
| NM_031900.3:c.*16A>G | NP_114106.1:n.*16A>G | |
| XM_005248337.2:c.*16A>G | XP_005248394.1:n.*16A>G | |
| XM_005248338.2:c.*16A>G | XP_005248395.1:n.*16A>G | |
| XM_011514077.1:c.1438-301A>G | XP_011512379.1:n.1438-301A>G | |
| XM_005248337.3:c.*16A>G | XP_005248394.1:n.*16A>G | |
| XM_005248338.3:c.*16A>G | XP_005248395.1:n.*16A>G | |
| XM_017009748.2:c.*16A>G | XP_016865237.1:n.*16A>G | |
| NM_031900.4:c.*16A>G MANE Select | NP_114106.1:n.*16A>G | |
| NM_001306173.2:c.*16A>G | NP_001293102.1:n.*16A>G |