Linked Data
ClinVar Variation Id:
241481
ClinVar RCV Id:
RCV000229394
RCV000338855
RCV000373715
RCV000402704
RCV001081658
RCV002256170
RCV004547616
dbSNP Id:
rs776209354
ExAC:
11:32456532 G / A
gnomAD v2:
11-32456532-G-A
gnomAD v3:
11-32434986-G-A
gnomAD v4:
11-32434986-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32434986G>A , CM000673.2:g.32434986G>A | GRCh38 |
| NC_000011.9:g.32456532G>A , CM000673.1:g.32456532G>A | GRCh37 |
| NC_000011.8:g.32413108G>A | NCBI36 |
| NG_009272.1:g.5556C>T , LRG_525:g.5556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.375C>T | ENSP00000331327.5:p.Gly125= | |
| ENST00000379077.9:c.375C>T | ENSP00000368368.5:p.Gly125= | |
| ENST00000448076.9:c.375C>T | ENSP00000413452.5:p.Gly125= | |
| ENST00000452863.10:c.375C>T MANE Select | ENSP00000415516.5:p.Gly125= | |
| ENST00000639563.3:c.375C>T | ENSP00000492269.3:p.Gly125= | |
| ENST00000332351.7:c.360C>T | ENSP00000331327.3:p.Gly120= | |
| ENST00000379077.7:c.360C>T | ENSP00000368368.3:p.Gly120= | |
| ENST00000448076.7:c.360C>T | ENSP00000413452.3:p.Gly120= | |
| ENST00000452863.7:c.360C>T | ENSP00000415516.3:p.Gly120= | |
| NM_000378.4:c.360C>T | NP_000369.3:p.Gly120= | |
| NM_024424.3:c.360C>T | NP_077742.2:p.Gly120= | |
| NM_024426.4:c.360C>T | NP_077744.3:p.Gly120= | |
| NM_000378.5:c.375C>T | NP_000369.4:p.Gly125= | |
| NM_024424.4:c.375C>T | NP_077742.3:p.Gly125= | |
| NM_024426.5:c.375C>T | NP_077744.4:p.Gly125= | |
| NR_160306.1:n.554C>T | ||
| NM_000378.6:c.375C>T | NP_000369.4:p.Gly125= | |
| NM_024424.5:c.375C>T | NP_077742.3:p.Gly125= | |
| NM_024426.6:c.375C>T MANE Select | NP_077744.4:p.Gly125= |