Linked Data
ClinVar Variation Id:
161635
ClinVar RCV Id:
RCV000149171
dbSNP Id:
rs193921141
gnomAD v2:
21-37781706-A-G
gnomAD v3:
21-36409408-A-G
gnomAD v4:
21-36409408-A-G
COSMIC:
COSM5521490
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36409408A>G , CM000683.2:g.36409408A>G | GRCh38 |
| NC_000021.8:g.37781706A>G , CM000683.1:g.37781706A>G | GRCh37 |
| NC_000021.7:g.36703576A>G | NCBI36 |
| NG_046962.1:g.37352A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314103.6:c.862A>G MANE Select | ENSP00000315700.4:p.Thr288Ala | |
| ENST00000314103.5:c.862A>G | ENSP00000315700.4:p.Thr288Ala | |
| ENST00000481458.1:n.199-2055A>G | ||
| NM_005441.2:c.862A>G | NP_005432.1:p.Thr288Ala | |
| XM_011529753.1:c.862A>G | XP_011528055.1:p.Thr288Ala | |
| XM_011529754.1:c.862A>G | XP_011528056.1:p.Thr288Ala | |
| XM_011529755.1:c.301A>G | XP_011528057.1:p.Thr101Ala | |
| XM_011529755.2:c.301A>G | XP_011528057.1:p.Thr101Ala | |
| XM_017028477.1:c.862A>G | XP_016883966.1:p.Thr288Ala | |
| XM_017028478.1:c.862A>G | XP_016883967.1:p.Thr288Ala | |
| NM_005441.3:c.862A>G MANE Select | NP_005432.1:p.Thr288Ala |