Linked Data
ClinVar Variation Id:
845672
ClinVar RCV Id:
RCV001048784
dbSNP Id:
rs1266953756
gnomAD v3:
5-132390710-A-C
gnomAD v4:
5-132390710-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390710A>C , CM000667.2:g.132390710A>C | GRCh38 |
| NC_000005.9:g.131726402A>C , CM000667.1:g.131726402A>C | GRCh37 |
| NC_000005.8:g.131754301A>C | NCBI36 |
| NG_008982.1:g.26002A>C | |
| NG_008982.2:g.26007A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.914A>C | ENSP00000388838.2:p.Tyr305Ser | |
| ENST00000435065.7:c.1145A>C | ENSP00000402760.2:p.Tyr382Ser | |
| ENST00000448810.6:c.1053-66A>C | ENSP00000401860.2:n.1053-66A>C | |
| ENST00000685543.1:n.1214A>C | ||
| ENST00000686757.1:c.*237A>C | ENSP00000510721.1:n.*237A>C | |
| ENST00000687740.1:n.3758A>C | ||
| ENST00000688151.1:n.2383A>C | ||
| ENST00000689271.1:c.920A>C | ENSP00000510797.1:p.Tyr307Ser | |
| ENST00000690900.1:c.*237A>C | ENSP00000510703.1:n.*237A>C | |
| ENST00000692212.1:n.2685A>C | ||
| ENST00000692355.1:c.326A>C | ||
| ENST00000692413.1:c.1055A>C | ENSP00000509374.1:p.Tyr352Ser | |
| ENST00000692825.1:c.1141A>C | ENSP00000509447.1:n.1141A>C | |
| ENST00000693308.1:c.1121A>C | ENSP00000509770.1:p.Tyr374Ser | |
| ENST00000693763.1:n.2233A>C | ||
| ENST00000245407.8:c.1073A>C MANE Select | ENSP00000245407.3:p.Tyr358Ser | |
| ENST00000245407.7:c.1073A>C | ENSP00000245407.3:p.Tyr358Ser | |
| ENST00000435065.6:c.1145A>C | ENSP00000402760.2:p.Tyr382Ser | |
| ENST00000447841.5:c.111+1689A>C | ||
| ENST00000448810.5:c.401-66A>C | ||
| ENST00000461013.5:n.8495A>C | ||
| ENST00000475308.1:n.1751A>C | ||
| ENST00000479605.5:n.176A>C | ||
| NM_001308122.1:c.1145A>C | NP_001295051.1:p.Tyr382Ser | |
| NM_003060.3:c.1073A>C | NP_003051.1:p.Tyr358Ser | |
| XM_011543590.1:c.455A>C | XP_011541892.1:p.Tyr152Ser | |
| XR_427718.1:n.1433A>C | ||
| XR_948290.1:n.1393+1689A>C | ||
| XR_948291.1:n.1427A>C | ||
| XM_011543590.2:c.455A>C | XP_011541892.1:p.Tyr152Ser | |
| XM_017009778.2:c.545A>C | XP_016865267.1:p.Tyr182Ser | |
| XR_001742215.1:n.1394-66A>C | ||
| XR_001742216.1:n.1413-66A>C | ||
| XR_427718.2:n.1433A>C | ||
| XR_948290.2:n.1393+1689A>C | ||
| XR_948291.2:n.1427A>C | ||
| NM_003060.4:c.1073A>C MANE Select | NP_003051.1:p.Tyr358Ser | |
| NM_001308122.2:c.1145A>C | NP_001295051.1:p.Tyr382Ser |