Linked Data
ClinVar Variation Id:
460394
dbSNP Id:
rs1224278173
gnomAD v2:
5-131726567-T-G
gnomAD v3:
5-132390875-T-G
gnomAD v4:
5-132390875-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390875T>G , CM000667.2:g.132390875T>G | GRCh38 |
| NC_000005.9:g.131726567T>G , CM000667.1:g.131726567T>G | GRCh37 |
| NC_000005.8:g.131754466T>G | NCBI36 |
| NG_008982.1:g.26167T>G | |
| NG_008982.2:g.26172T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1079T>G | ENSP00000388838.2:p.Val360Gly | |
| ENST00000435065.7:c.1310T>G | ENSP00000402760.2:p.Val437Gly | |
| ENST00000448810.6:c.*90T>G | ENSP00000401860.2:n.*90T>G | |
| ENST00000685543.1:n.1379T>G | ||
| ENST00000686757.1:c.*402T>G | ENSP00000510721.1:n.*402T>G | |
| ENST00000687740.1:n.3923T>G | ||
| ENST00000688151.1:n.2548T>G | ||
| ENST00000689271.1:c.1085T>G | ENSP00000510797.1:p.Val362Gly | |
| ENST00000690900.1:c.*402T>G | ENSP00000510703.1:n.*402T>G | |
| ENST00000692212.1:n.2850T>G | ||
| ENST00000692355.1:c.491T>G | ||
| ENST00000692413.1:c.1220T>G | ENSP00000509374.1:p.Val407Gly | |
| ENST00000692825.1:c.1306T>G | ENSP00000509447.1:n.1306T>G | |
| ENST00000693308.1:c.1286T>G | ENSP00000509770.1:p.Val429Gly | |
| ENST00000693763.1:n.2398T>G | ||
| ENST00000245407.8:c.1238T>G MANE Select | ENSP00000245407.3:p.Val413Gly | |
| ENST00000245407.7:c.1238T>G | ENSP00000245407.3:p.Val413Gly | |
| ENST00000435065.6:c.1310T>G | ENSP00000402760.2:p.Val437Gly | |
| ENST00000447841.5:c.112-1558T>G | ||
| ENST00000448810.5:c.500T>G | ||
| ENST00000461013.5:n.8660T>G | ||
| ENST00000475308.1:n.1916T>G | ||
| ENST00000479605.5:n.341T>G | ||
| NM_001308122.1:c.1310T>G | NP_001295051.1:p.Val437Gly | |
| NM_003060.3:c.1238T>G | NP_003051.1:p.Val413Gly | |
| XM_011543590.1:c.620T>G | XP_011541892.1:p.Val207Gly | |
| XR_427718.1:n.1598T>G | ||
| XR_948290.1:n.1394-1558T>G | ||
| XR_948291.1:n.1592T>G | ||
| XM_011543590.2:c.620T>G | XP_011541892.1:p.Val207Gly | |
| XM_017009778.2:c.710T>G | XP_016865267.1:p.Val237Gly | |
| XR_001742215.1:n.1493T>G | ||
| XR_001742216.1:n.1512T>G | ||
| XR_427718.2:n.1598T>G | ||
| XR_948290.2:n.1394-1558T>G | ||
| XR_948291.2:n.1592T>G | ||
| NM_003060.4:c.1238T>G MANE Select | NP_003051.1:p.Val413Gly | |
| NM_001308122.2:c.1310T>G | NP_001295051.1:p.Val437Gly |