Linked Data
ClinVar Variation Id:
2701845
ClinVar RCV Id:
RCV003592527
MyVariant Identifiers:
chr20:g.44664454G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46035815G>T , CM000682.2:g.46035815G>T | GRCh38 |
| NC_000020.10:g.44664454G>T , CM000682.1:g.44664454G>T | GRCh37 |
| NC_000020.9:g.44097861G>T | NCBI36 |
| NG_046341.1:g.19126G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.318G>T MANE Select | ENSP00000243964.4:p.Pro106= | |
| ENST00000243964.6:c.318G>T | ENSP00000243964.3:p.Pro106= | |
| ENST00000372315.4:n.467G>T | ||
| ENST00000454036.6:c.387G>T | ENSP00000387694.1:p.Pro129= | |
| ENST00000539566.3:c.318G>T | ENSP00000446091.1:p.Pro106= | |
| ENST00000608944.5:c.186G>T | ENSP00000476885.2:p.Pro62= | |
| ENST00000616201.4:c.318G>T | ENSP00000484585.1:p.Pro106= | |
| ENST00000616202.4:c.318G>T | ENSP00000478369.1:p.Pro106= | |
| ENST00000616933.4:c.318G>T | ENSP00000477569.1:p.Pro106= | |
| ENST00000622711.4:n.481G>T | ||
| ENST00000625683.2:n.481G>T | ||
| ENST00000626937.2:c.318G>T | ENSP00000485953.1:p.Pro106= | |
| ENST00000627290.2:c.*171G>T | ENSP00000487449.1:n.*171G>T | |
| ENST00000629054.2:n.842G>T | ||
| NM_001134771.1:c.387G>T | NP_001128243.1:p.Pro129= | |
| NM_020708.4:c.318G>T | NP_065759.1:p.Pro106= | |
| XM_017027981.1:c.387G>T | XP_016883470.1:p.Pro129= | |
| NM_001134771.2:c.387G>T | NP_001128243.1:p.Pro129= | |
| NM_020708.5:c.318G>T MANE Select | NP_065759.1:p.Pro106= |