Linked Data
ClinVar Variation Id:
1209793
ClinVar RCV Id:
RCV001579130
dbSNP Id:
rs2126783662
MyVariant Identifiers:
chr5:g.131721060T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385368T>C , CM000667.2:g.132385368T>C | GRCh38 |
| NC_000005.9:g.131721060T>C , CM000667.1:g.131721060T>C | GRCh37 |
| NC_000005.8:g.131748959T>C | NCBI36 |
| NG_008982.1:g.20660T>C | |
| NG_008982.2:g.20665T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.665+1054T>C | ENSP00000388838.2:n.665+1054T>C | |
| ENST00000435065.7:c.765T>C | ENSP00000402760.2:p.Ser255= | |
| ENST00000448810.6:c.693T>C | ENSP00000401860.2:p.Ser231= | |
| ENST00000686757.1:c.712T>C | ENSP00000510721.1:p.Tyr238His | |
| ENST00000687740.1:n.1853T>C | ||
| ENST00000688151.1:n.1885T>C | ||
| ENST00000689271.1:c.671+1048T>C | ENSP00000510797.1:n.671+1048T>C | |
| ENST00000690900.1:c.672-8T>C | ENSP00000510703.1:n.672-8T>C | |
| ENST00000692212.1:n.519T>C | ||
| ENST00000692355.1:c.204+1067T>C | ||
| ENST00000692413.1:c.712T>C | ENSP00000509374.1:p.Tyr238His | |
| ENST00000692825.1:c.761T>C | ENSP00000509447.1:n.761T>C | |
| ENST00000693308.1:c.706T>C | ENSP00000509770.1:p.Tyr236His | |
| ENST00000693763.1:n.1853T>C | ||
| ENST00000245407.8:c.693T>C MANE Select | ENSP00000245407.3:p.Ser231= | |
| ENST00000245407.7:c.693T>C | ENSP00000245407.3:p.Ser231= | |
| ENST00000415928.5:c.462T>C | ENSP00000388838.1:p.Ser154= | |
| ENST00000435065.6:c.765T>C | ENSP00000402760.2:p.Ser255= | |
| ENST00000437841.6:c.*8T>C | ENSP00000400553.1:n.*8T>C | |
| ENST00000448810.5:c.41T>C | ||
| ENST00000461013.5:n.8115T>C | ||
| NM_001308122.1:c.765T>C | NP_001295051.1:p.Ser255= | |
| NM_003060.3:c.693T>C | NP_003051.1:p.Ser231= | |
| XM_011543590.1:c.75T>C | XP_011541892.1:p.Ser25= | |
| XR_427718.1:n.1053T>C | ||
| XR_948290.1:n.1034T>C | ||
| XR_948291.1:n.1047T>C | ||
| XM_011543590.2:c.75T>C | XP_011541892.1:p.Ser25= | |
| XM_017009778.2:c.165T>C | XP_016865267.1:p.Ser55= | |
| XR_001742215.1:n.1034T>C | ||
| XR_001742216.1:n.1053T>C | ||
| XR_427718.2:n.1053T>C | ||
| XR_948290.2:n.1034T>C | ||
| XR_948291.2:n.1047T>C | ||
| NM_003060.4:c.693T>C MANE Select | NP_003051.1:p.Ser231= | |
| NM_001308122.2:c.765T>C | NP_001295051.1:p.Ser255= |