Linked Data
ClinVar Variation Id:
3499
ClinVar RCV Id:
RCV000003673
dbSNP Id:
rs121907908
COSMIC:
COSM21413
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32400025T>C , CM000673.2:g.32400025T>C | GRCh38 |
| NC_000011.9:g.32421571T>C , CM000673.1:g.32421571T>C | GRCh37 |
| NC_000011.8:g.32378147T>C | NCBI36 |
| NG_009272.1:g.40517A>G , LRG_525:g.40517A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.985A>G | ENSP00000331327.5:p.Ser329Gly | |
| ENST00000379077.9:c.*220A>G | ENSP00000368368.5:n.*220A>G | |
| ENST00000379079.8:c.385A>G | ENSP00000368370.2:p.Ser129Gly | |
| ENST00000448076.9:c.1036A>G | ENSP00000413452.5:p.Ser346Gly | |
| ENST00000452863.10:c.1036A>G MANE Select | ENSP00000415516.5:p.Ser346Gly | |
| ENST00000526685.2:n.490A>G | ||
| ENST00000639563.3:c.985A>G | ENSP00000492269.3:p.Ser329Gly | |
| ENST00000639907.2:n.179A>G | ||
| ENST00000640146.2:c.361A>G | ENSP00000491984.2:p.Ser121Gly | |
| ENST00000651794.1:n.779A>G | ||
| ENST00000652579.1:n.196A>G | ||
| ENST00000652724.1:n.226A>G | ||
| ENST00000332351.7:c.1021A>G | ENSP00000331327.3:p.Ser341Gly | |
| ENST00000379077.7:c.*220A>G | ENSP00000368368.3:n.*220A>G | |
| ENST00000379079.6:c.385A>G | ENSP00000368370.2:p.Ser129Gly | |
| ENST00000448076.7:c.1021A>G | ENSP00000413452.3:p.Ser341Gly | |
| ENST00000452863.7:c.970A>G | ENSP00000415516.3:p.Ser324Gly | |
| ENST00000526685.1:c.-153A>G | ENSP00000436292.1:n.-153A>G | |
| ENST00000527775.1:c.274A>G | ENSP00000435351.1:p.Ser92Gly | |
| ENST00000527882.5:c.92A>G | ||
| ENST00000530998.5:c.334A>G | ENSP00000435307.1:p.Ser112Gly | |
| NM_000378.4:c.970A>G | NP_000369.3:p.Ser324Gly | |
| NM_001198551.1:c.385A>G , LRG_525t2:c.385A>G | NP_001185480.1:p.Ser129Gly | |
| NM_001198552.1:c.334A>G | NP_001185481.1:p.Ser112Gly | |
| NM_024424.3:c.1021A>G | NP_077742.2:p.Ser341Gly | |
| NM_024426.4:c.1021A>G | NP_077744.3:p.Ser341Gly | |
| NM_000378.5:c.985A>G | NP_000369.4:p.Ser329Gly | |
| NM_024424.4:c.1036A>G | NP_077742.3:p.Ser346Gly | |
| NM_024426.5:c.1036A>G | NP_077744.4:p.Ser346Gly | |
| NM_001367854.1:c.-153A>G | NP_001354783.1:n.-153A>G | |
| NR_160306.1:n.1368A>G | ||
| NM_000378.6:c.985A>G | NP_000369.4:p.Ser329Gly | |
| NM_001198552.2:c.334A>G | NP_001185481.1:p.Ser112Gly | |
| NM_024424.5:c.1036A>G | NP_077742.3:p.Ser346Gly | |
| NM_024426.6:c.1036A>G MANE Select | NP_077744.4:p.Ser346Gly |