Linked Data
dbSNP Id:
rs762919368
ExAC:
17:42990740 A / G
gnomAD v2:
17-42990740-A-G
gnomAD v3:
17-44913372-A-G
gnomAD v4:
17-44913372-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44913372A>G , CM000679.2:g.44913372A>G | GRCh38 |
| NC_000017.10:g.42990740A>G , CM000679.1:g.42990740A>G | GRCh37 |
| NC_000017.9:g.40346266A>G | NCBI36 |
| NG_008401.1:g.7175T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.677T>C | ENSP00000253408.5:p.Val226Ala | |
| ENST00000435360.8:c.677T>C | ENSP00000403962.1:p.Val226Ala | |
| ENST00000253408.10:c.677T>C | ENSP00000253408.5:p.Val226Ala | |
| ENST00000435360.7:c.677T>C | ENSP00000403962.1:p.Val226Ala | |
| ENST00000586127.6:n.1206T>C | ||
| ENST00000586793.6:c.677T>C | ENSP00000468500.2:p.Val226Ala | |
| ENST00000587997.6:n.153T>C | ||
| ENST00000588735.3:c.677T>C MANE Select | ENSP00000466598.2:p.Val226Ala | |
| ENST00000591327.2:n.1831T>C | ||
| ENST00000592320.6:c.618+356T>C | ENSP00000465320.1:n.618+356T>C | |
| ENST00000638281.1:c.677T>C | ENSP00000491088.1:p.Val226Ala | |
| ENST00000638618.1:c.332T>C | ENSP00000492832.1:p.Val111Ala | |
| ENST00000639277.1:c.677T>C | ENSP00000492432.1:p.Val226Ala | |
| ENST00000640552.1:n.691T>C | ||
| ENST00000253408.9:c.677T>C | ENSP00000253408.4:p.Val226Ala | |
| ENST00000376990.8:c.*76T>C | ENSP00000366189.4:n.*76T>C | |
| ENST00000435360.6:c.677T>C | ENSP00000403962.1:p.Val226Ala | |
| ENST00000585728.5:c.*321T>C | ENSP00000465208.1:n.*321T>C | |
| ENST00000586127.5:c.16T>C | ENSP00000464795.1:p.Trp6Arg | |
| ENST00000586793.5:c.677T>C | ENSP00000468500.1:p.Val226Ala | |
| ENST00000587997.5:c.153T>C | ||
| ENST00000588316.1:c.581T>C | ENSP00000465629.1:p.Val194Ala | |
| ENST00000588735.1:c.82+2033T>C | ENSP00000466598.1:n.82+2033T>C | |
| ENST00000588957.5:c.-56T>C | ENSP00000465565.1:n.-56T>C | |
| ENST00000590922.1:n.327T>C | ||
| ENST00000592320.5:c.618+356T>C | ENSP00000465320.1:n.618+356T>C | |
| NM_001131019.2:c.677T>C | NP_001124491.1:p.Val226Ala | |
| NM_001242376.1:c.677T>C | NP_001229305.1:p.Val226Ala | |
| NM_002055.4:c.677T>C | NP_002046.1:p.Val226Ala | |
| NM_001363846.1:c.677T>C | NP_001350775.1:p.Val226Ala | |
| XM_024450690.1:c.881T>C | XP_024306458.1:p.Val294Ala | |
| XM_024450691.1:c.881T>C | XP_024306459.1:p.Val294Ala | |
| XM_024450692.1:c.881T>C | XP_024306460.1:p.Val294Ala | |
| XM_024450693.1:c.881T>C | XP_024306461.1:p.Val294Ala | |
| NM_002055.5:c.677T>C MANE Select | NP_002046.1:p.Val226Ala | |
| NM_001131019.3:c.677T>C | NP_001124491.1:p.Val226Ala | |
| NM_001242376.2:c.677T>C | NP_001229305.1:p.Val226Ala | |
| NM_001242376.3:c.677T>C | NP_001229305.1:p.Val226Ala | |
| NM_001363846.2:c.677T>C | NP_001350775.1:p.Val226Ala |