Linked Data
ClinVar Variation Id:
2139324
ClinVar RCV Id:
RCV003070797
dbSNP Id:
rs371671953
ExAC:
4:997380 T / C
gnomAD v2:
4-997380-T-C
gnomAD v3:
4-1003592-T-C
gnomAD v4:
4-1003592-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003592T>C , CM000666.2:g.1003592T>C | GRCh38 |
| NC_000004.11:g.997380T>C , CM000666.1:g.997380T>C | GRCh37 |
| NC_000004.10:g.987380T>C | NCBI36 |
| NG_008103.1:g.21596T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1694T>C | ENSP00000247933.4:p.Val565Ala | |
| ENST00000514224.2:c.1694T>C MANE Select | ENSP00000425081.2:p.Val565Ala | |
| ENST00000652070.1:n.1750T>C | ||
| ENST00000247933.8:c.1694T>C | ENSP00000247933.4:p.Val565Ala | |
| ENST00000514224.1:c.1298T>C | ENSP00000425081.1:p.Val433Ala | |
| ENST00000514417.1:n.86T>C | ||
| ENST00000514698.5:n.1801T>C | ||
| NM_000203.4:c.1694T>C | NP_000194.2:p.Val565Ala | |
| NR_110313.1:n.1782T>C | ||
| XM_006713882.2:c.1298T>C | XP_006713945.1:p.Val433Ala | |
| XM_011513459.1:c.1760T>C | XP_011511761.1:p.Val587Ala | |
| XM_011513460.1:c.1553T>C | XP_011511762.1:p.Val518Ala | |
| XM_011513461.1:c.1487T>C | XP_011511763.1:p.Val496Ala | |
| XM_011513462.1:c.1406T>C | XP_011511764.1:p.Val469Ala | |
| XM_011513463.1:c.1406T>C | XP_011511765.1:p.Val469Ala | |
| XR_924947.1:n.1950T>C | ||
| NM_000203.5:c.1694T>C MANE Select | NP_000194.2:p.Val565Ala | |
| NM_001363576.1:c.1298T>C | NP_001350505.1:p.Val433Ala | |
| XM_011513461.2:c.1487T>C | XP_011511763.1:p.Val496Ala | |
| XM_017008163.1:c.734T>C | XP_016863652.1:p.Val245Ala |