Linked Data
ClinVar Variation Id:
1707676
ClinVar RCV Id:
RCV002286655
dbSNP Id:
rs756015838
ExAC:
5:131726435 A / C
gnomAD v2:
5-131726435-A-C
gnomAD v4:
5-132390743-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390743A>C , CM000667.2:g.132390743A>C | GRCh38 |
| NC_000005.9:g.131726435A>C , CM000667.1:g.131726435A>C | GRCh37 |
| NC_000005.8:g.131754334A>C | NCBI36 |
| NG_008982.1:g.26035A>C | |
| NG_008982.2:g.26040A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.947A>C | ENSP00000388838.2:p.His316Pro | |
| ENST00000435065.7:c.1178A>C | ENSP00000402760.2:p.His393Pro | |
| ENST00000448810.6:c.1053-33A>C | ENSP00000401860.2:n.1053-33A>C | |
| ENST00000685543.1:n.1247A>C | ||
| ENST00000686757.1:c.*270A>C | ENSP00000510721.1:n.*270A>C | |
| ENST00000687740.1:n.3791A>C | ||
| ENST00000688151.1:n.2416A>C | ||
| ENST00000689271.1:c.953A>C | ENSP00000510797.1:p.His318Pro | |
| ENST00000690900.1:c.*270A>C | ENSP00000510703.1:n.*270A>C | |
| ENST00000692212.1:n.2718A>C | ||
| ENST00000692355.1:c.359A>C | ||
| ENST00000692413.1:c.1088A>C | ENSP00000509374.1:p.His363Pro | |
| ENST00000692825.1:c.1174A>C | ENSP00000509447.1:n.1174A>C | |
| ENST00000693308.1:c.1154A>C | ENSP00000509770.1:p.His385Pro | |
| ENST00000693763.1:n.2266A>C | ||
| ENST00000245407.8:c.1106A>C MANE Select | ENSP00000245407.3:p.His369Pro | |
| ENST00000245407.7:c.1106A>C | ENSP00000245407.3:p.His369Pro | |
| ENST00000435065.6:c.1178A>C | ENSP00000402760.2:p.His393Pro | |
| ENST00000447841.5:c.112-1690A>C | ||
| ENST00000448810.5:c.401-33A>C | ||
| ENST00000461013.5:n.8528A>C | ||
| ENST00000475308.1:n.1784A>C | ||
| ENST00000479605.5:n.209A>C | ||
| NM_001308122.1:c.1178A>C | NP_001295051.1:p.His393Pro | |
| NM_003060.3:c.1106A>C | NP_003051.1:p.His369Pro | |
| XM_011543590.1:c.488A>C | XP_011541892.1:p.His163Pro | |
| XR_427718.1:n.1466A>C | ||
| XR_948290.1:n.1394-1690A>C | ||
| XR_948291.1:n.1460A>C | ||
| XM_011543590.2:c.488A>C | XP_011541892.1:p.His163Pro | |
| XM_017009778.2:c.578A>C | XP_016865267.1:p.His193Pro | |
| XR_001742215.1:n.1394-33A>C | ||
| XR_001742216.1:n.1413-33A>C | ||
| XR_427718.2:n.1466A>C | ||
| XR_948290.2:n.1394-1690A>C | ||
| XR_948291.2:n.1460A>C | ||
| NM_003060.4:c.1106A>C MANE Select | NP_003051.1:p.His369Pro | |
| NM_001308122.2:c.1178A>C | NP_001295051.1:p.His393Pro |