Linked Data
dbSNP Id:
rs747590097
ExAC:
5:141005626 T / C
gnomAD v2:
5-141005626-T-C
gnomAD v3:
5-141626059-T-C
gnomAD v4:
5-141626059-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141626059T>C , CM000667.2:g.141626059T>C | GRCh38 |
| NC_000005.9:g.141005626T>C , CM000667.1:g.141005626T>C | GRCh37 |
| NC_000005.8:g.140985810T>C | NCBI36 |
| NG_029678.1:g.15798A>G | |
| NG_029678.2:g.15798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305264.8:c.933A>G MANE Select | ENSP00000302967.3:p.Thr311= | |
| ENST00000305264.7:c.933A>G | ENSP00000302967.3:p.Thr311= | |
| ENST00000459727.5:n.233+135A>G | ||
| ENST00000467533.5:n.599+135A>G | ||
| ENST00000469207.5:n.12A>G | ||
| ENST00000469550.6:n.1006A>G | ||
| ENST00000475549.1:n.264A>G | ||
| ENST00000486618.1:n.427A>G | ||
| ENST00000491581.5:n.147A>G | ||
| ENST00000492407.1:n.767+135A>G | ||
| NM_003883.3:c.933A>G | NP_003874.2:p.Thr311= | |
| XM_011537697.1:c.372A>G | XP_011535999.1:p.Thr124= | |
| XR_944336.1:n.1018A>G | ||
| NM_001355039.1:c.933A>G | NP_001341968.1:p.Thr311= | |
| NM_001355040.1:c.474A>G | NP_001341969.1:p.Thr158= | |
| NM_001355041.1:c.372A>G | NP_001341970.1:p.Thr124= | |
| NR_149164.1:n.999A>G | ||
| NR_149165.1:n.881A>G | ||
| NR_149166.1:n.843+135A>G | ||
| NR_149167.1:n.1011+135A>G | ||
| NR_149168.1:n.1024A>G | ||
| NR_149169.1:n.1024A>G | ||
| NM_003883.4:c.933A>G MANE Select | NP_003874.2:p.Thr311= | |
| NM_001355039.2:c.933A>G | NP_001341968.1:p.Thr311= | |
| NR_149167.2:n.1004+135A>G | ||
| NM_001355040.2:c.474A>G | NP_001341969.1:p.Thr158= | |
| NM_001355041.2:c.372A>G | NP_001341970.1:p.Thr124= | |
| NR_149164.2:n.992A>G | ||
| NR_149165.2:n.874A>G | ||
| NR_149166.2:n.836+135A>G | ||
| NR_149168.2:n.1017A>G | ||
| NR_149169.2:n.1017A>G |