Linked Data
ClinVar Variation Id:
1159499
ClinVar RCV Id:
RCV001503280
dbSNP Id:
rs1561571523
MyVariant Identifiers:
chr5:g.131721117T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385425T>G , CM000667.2:g.132385425T>G | GRCh38 |
| NC_000005.9:g.131721117T>G , CM000667.1:g.131721117T>G | GRCh37 |
| NC_000005.8:g.131749016T>G | NCBI36 |
| NG_008982.1:g.20717T>G | |
| NG_008982.2:g.20722T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.665+1111T>G | ENSP00000388838.2:n.665+1111T>G | |
| ENST00000435065.7:c.822T>G | ENSP00000402760.2:p.Ala274= | |
| ENST00000448810.6:c.750T>G | ENSP00000401860.2:p.Ala250= | |
| ENST00000686757.1:c.769T>G | ENSP00000510721.1:p.Leu257Val | |
| ENST00000687740.1:n.1910T>G | ||
| ENST00000688151.1:n.1942T>G | ||
| ENST00000689271.1:c.671+1105T>G | ENSP00000510797.1:n.671+1105T>G | |
| ENST00000690900.1:c.721T>G | ENSP00000510703.1:p.Leu241Val | |
| ENST00000692212.1:n.576T>G | ||
| ENST00000692355.1:c.204+1124T>G | ||
| ENST00000692413.1:c.769T>G | ENSP00000509374.1:p.Leu257Val | |
| ENST00000692825.1:c.818T>G | ENSP00000509447.1:n.818T>G | |
| ENST00000693308.1:c.763T>G | ENSP00000509770.1:p.Leu255Val | |
| ENST00000693763.1:n.1910T>G | ||
| ENST00000245407.8:c.750T>G MANE Select | ENSP00000245407.3:p.Ala250= | |
| ENST00000245407.7:c.750T>G | ENSP00000245407.3:p.Ala250= | |
| ENST00000415928.5:c.519T>G | ENSP00000388838.1:p.Ala173= | |
| ENST00000435065.6:c.822T>G | ENSP00000402760.2:p.Ala274= | |
| ENST00000437841.6:c.*65T>G | ENSP00000400553.1:n.*65T>G | |
| ENST00000448810.5:c.98T>G | ||
| ENST00000461013.5:n.8172T>G | ||
| NM_001308122.1:c.822T>G | NP_001295051.1:p.Ala274= | |
| NM_003060.3:c.750T>G | NP_003051.1:p.Ala250= | |
| XM_011543590.1:c.132T>G | XP_011541892.1:p.Ala44= | |
| XR_427718.1:n.1110T>G | ||
| XR_948290.1:n.1091T>G | ||
| XR_948291.1:n.1104T>G | ||
| XM_011543590.2:c.132T>G | XP_011541892.1:p.Ala44= | |
| XM_017009778.2:c.222T>G | XP_016865267.1:p.Ala74= | |
| XR_001742215.1:n.1091T>G | ||
| XR_001742216.1:n.1110T>G | ||
| XR_427718.2:n.1110T>G | ||
| XR_948290.2:n.1091T>G | ||
| XR_948291.2:n.1104T>G | ||
| NM_003060.4:c.750T>G MANE Select | NP_003051.1:p.Ala250= | |
| NM_001308122.2:c.822T>G | NP_001295051.1:p.Ala274= |