Linked Data
ClinVar Variation Id:
2871565
ClinVar RCV Id:
RCV003638247
MyVariant Identifiers:
chr20:g.8717710T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.8737063T>C , CM000682.2:g.8737063T>C | GRCh38 |
| NC_000020.10:g.8717710T>C , CM000682.1:g.8717710T>C | GRCh37 |
| NC_000020.9:g.8665710T>C | NCBI36 |
| NG_028168.1:g.609415T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338037.11:c.2079T>C MANE Select | ENSP00000338185.6:p.Val693= | |
| ENST00000635830.1:n.2150T>C | ||
| ENST00000636825.1:n.1943T>C | ||
| ENST00000637919.1:c.1776T>C | ENSP00000490862.1:p.Val592= | |
| ENST00000338037.10:c.2079T>C | ENSP00000338185.6:p.Val693= | |
| ENST00000378637.6:c.2079T>C | ENSP00000367904.2:p.Val693= | |
| ENST00000378641.7:c.2079T>C | ENSP00000367908.3:p.Val693= | |
| ENST00000439627.2:c.36T>C | ENSP00000391162.1:p.Val12= | |
| ENST00000487210.5:c.1301T>C | ||
| ENST00000494924.2:n.1231T>C | ||
| ENST00000612075.4:c.1839T>C | ENSP00000479997.1:p.Val613= | |
| ENST00000617005.4:c.1839T>C | ENSP00000477664.1:p.Val613= | |
| ENST00000625874.2:c.1776T>C | ENSP00000486301.1:p.Val592= | |
| ENST00000626966.2:c.1776T>C | ENSP00000487075.1:p.Val592= | |
| NM_015192.3:c.2079T>C | NP_056007.1:p.Val693= | |
| NM_182734.2:c.2079T>C | NP_877398.1:p.Val693= | |
| XM_011529199.1:c.2079T>C | XP_011527501.1:p.Val693= | |
| XM_011529200.1:c.1863T>C | XP_011527502.1:p.Val621= | |
| XM_011529201.1:c.1776T>C | XP_011527503.1:p.Val592= | |
| XM_011529203.1:c.306T>C | XP_011527505.1:p.Val102= | |
| NM_015192.4:c.2079T>C MANE Select | NP_056007.1:p.Val693= | |
| NM_182734.3:c.2079T>C | NP_877398.1:p.Val693= |