Linked Data
ClinVar Variation Id:
44265
ClinVar RCV Id:
RCV000037245
RCV000056805
RCV000203295
RCV000239721
RCV000250294
RCV000263666
RCV000313133
RCV000367823
RCV001083932
RCV001171067
dbSNP Id:
rs41272699
ExAC:
2:220284876 C / T
gnomAD v2:
2-220284876-C-T
gnomAD v3:
2-219420154-C-T
gnomAD v4:
2-219420154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420154C>T , CM000664.2:g.219420154C>T | GRCh38 |
| NC_000002.11:g.220284876C>T , CM000664.1:g.220284876C>T | GRCh37 |
| NC_000002.10:g.219993120C>T | NCBI36 |
| NG_008043.1:g.6778C>T , LRG_380:g.6778C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.112C>T | ||
| ENST00000373960.4:c.638C>T MANE Select | ENSP00000363071.3:p.Ala213Val | |
| ENST00000373960.3:c.638C>T | ENSP00000363071.3:p.Ala213Val | |
| ENST00000477226.5:n.110C>T | ||
| ENST00000492726.1:n.33C>T | ||
| NM_001927.3:c.638C>T , LRG_380t1:c.638C>T | NP_001918.3:p.Ala213Val | |
| NM_001927.4:c.638C>T MANE Select | NP_001918.3:p.Ala213Val | |
| NM_001382708.1:c.636+2C>T | NP_001369637.1:n.636+2C>T | |
| NM_001382709.1:c.638C>T | NP_001369638.1:p.Ala213Val | |
| NM_001382710.1:c.638C>T | NP_001369639.1:p.Ala213Val | |
| NM_001382711.1:c.638C>T | NP_001369640.1:p.Ala213Val | |
| NM_001382712.1:c.638C>T | NP_001369641.1:p.Ala213Val | |
| NM_001382713.1:c.496-371C>T | NP_001369642.1:n.496-371C>T |