Linked Data
ClinVar Variation Id:
2209
ClinVar RCV Id:
RCV000002293
dbSNP Id:
rs104894541
PubMed:
PMID:14765194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31094558T>C , CM000678.2:g.31094558T>C | GRCh38 |
| NC_000016.9:g.31105879T>C , CM000678.1:g.31105879T>C | GRCh37 |
| NC_000016.8:g.31013380T>C | NCBI36 |
| NG_011564.1:g.5398A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394975.3:c.172A>G MANE Select | ENSP00000378426.2:p.Arg58Gly | |
| ENST00000300851.10:c.172A>G | ENSP00000300851.6:p.Arg58Gly | |
| ENST00000319788.11:c.172A>G | ENSP00000326135.7:p.Arg58Gly | |
| ENST00000354895.4:c.172A>G | ENSP00000346969.4:p.Arg58Gly | |
| ENST00000394975.2:c.172A>G | ENSP00000378426.2:p.Arg58Gly | |
| ENST00000420057.2:c.245+831A>G | ||
| ENST00000498155.1:c.270+831A>G | ENSP00000417662.1:n.270+831A>G | |
| ENST00000529564.1:c.172A>G | ENSP00000431371.1:p.Arg58Gly | |
| ENST00000532364.1:c.172A>G | ENSP00000460316.1:p.Arg58Gly | |
| ENST00000533518.5:c.45A>G | ||
| NM_001311311.1:c.172A>G | NP_001298240.1:p.Arg58Gly | |
| NM_024006.4:c.172A>G | NP_076869.1:p.Arg58Gly | |
| NM_024006.5:c.172A>G | NP_076869.1:p.Arg58Gly | |
| NM_206824.1:c.172A>G | NP_996560.1:p.Arg58Gly | |
| NM_206824.2:c.172A>G | NP_996560.1:p.Arg58Gly | |
| XM_011545944.1:c.172A>G | XP_011544246.1:p.Arg58Gly | |
| XM_011545945.1:c.172A>G | XP_011544247.1:p.Arg58Gly | |
| XR_950848.1:n.960A>G | ||
| NM_024006.6:c.172A>G MANE Select | NP_076869.1:p.Arg58Gly | |
| NM_001311311.2:c.172A>G | NP_001298240.1:p.Arg58Gly | |
| NM_206824.3:c.172A>G | NP_996560.1:p.Arg58Gly |