Linked Data
ClinVar Variation Id:
255988
ClinVar RCV Id:
RCV000254500
RCV000309008
RCV000363741
RCV000473010
RCV000771105
RCV001094633
RCV001837807
RCV002392762
dbSNP Id:
rs72653093
ExAC:
2:21232128 G / A
gnomAD v2:
2-21232128-G-A
gnomAD v3:
2-21009256-G-A
gnomAD v4:
2-21009256-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21009256G>A , CM000664.2:g.21009256G>A | GRCh38 |
| NC_000002.11:g.21232128G>A , CM000664.1:g.21232128G>A | GRCh37 |
| NC_000002.10:g.21085633G>A | NCBI36 |
| NG_011793.1:g.39818C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.7612C>T MANE Select | ENSP00000233242.1:p.Leu2538= | |
| ENST00000616098.4:c.7612C>T | ENSP00000477990.1:p.Leu2538= | |
| NM_000384.2:c.7612C>T | NP_000375.2:p.Leu2538= | |
| XM_011532809.1:c.5869+1477C>T | XP_011531111.1:n.5869+1477C>T | |
| NM_000384.3:c.7612C>T MANE Select | NP_000375.3:p.Leu2538= |