Linked Data
ClinVar Variation Id:
961769
ClinVar RCV Id:
RCV001235527
dbSNP Id:
rs746789187
ExAC:
2:29296404 C / T
gnomAD v2:
2-29296404-C-T
gnomAD v3:
2-29073538-C-T
gnomAD v4:
2-29073538-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073538C>T , CM000664.2:g.29073538C>T | GRCh38 |
| NC_000002.11:g.29296404C>T , CM000664.1:g.29296404C>T | GRCh37 |
| NC_000002.10:g.29149908C>T | NCBI36 |
| NG_021427.1:g.5724G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.724G>A MANE Select | ENSP00000332809.4:p.Val242Met | |
| ENST00000331664.5:c.724G>A | ENSP00000332809.4:p.Val242Met | |
| NM_001029883.2:c.724G>A | NP_001025054.1:p.Val242Met | |
| XM_011532826.1:c.724G>A | XP_011531128.1:p.Val242Met | |
| XR_939901.1:n.185+4371C>T | ||
| XR_939902.1:n.173+4383C>T | ||
| NM_001029883.3:c.724G>A MANE Select | NP_001025054.1:p.Val242Met |