Linked Data
ClinVar Variation Id:
2147556
ClinVar RCV Id:
RCV003077251
dbSNP Id:
rs1200728542
gnomAD v2:
2-21230274-T-C
gnomAD v4:
2-21007402-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21007402T>C , CM000664.2:g.21007402T>C | GRCh38 |
| NC_000002.11:g.21230274T>C , CM000664.1:g.21230274T>C | GRCh37 |
| NC_000002.10:g.21083779T>C | NCBI36 |
| NG_011793.1:g.41672A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.9466A>G MANE Select | ENSP00000233242.1:p.Thr3156Ala | |
| ENST00000616098.4:c.9466A>G | ENSP00000477990.1:p.Thr3156Ala | |
| NM_000384.2:c.9466A>G | NP_000375.2:p.Thr3156Ala | |
| XM_011532809.1:c.5869+3331A>G | XP_011531111.1:n.5869+3331A>G | |
| NM_000384.3:c.9466A>G MANE Select | NP_000375.3:p.Thr3156Ala |