Linked Data
ClinVar Variation Id:
2245702
ClinVar RCV Id:
RCV004106335
dbSNP Id:
rs1323597038
gnomAD v3:
16-4762308-A-G
gnomAD v4:
16-4762308-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4762308A>G , CM000678.2:g.4762308A>G | GRCh38 |
| NC_000016.9:g.4812309A>G , CM000678.1:g.4812309A>G | GRCh37 |
| NC_000016.8:g.4752310A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219478.11:c.626T>C MANE Select | ENSP00000219478.5:p.Met209Thr | |
| ENST00000219478.10:c.626T>C | ENSP00000219478.5:p.Met209Thr | |
| ENST00000545009.1:c.626T>C | ENSP00000445714.1:p.Met209Thr | |
| ENST00000589422.1:c.*154T>C | ENSP00000466375.1:n.*154T>C | |
| NM_001303450.1:c.626T>C | NP_001290379.1:p.Met209Thr | |
| NM_021646.2:c.626T>C | NP_067678.1:p.Met209Thr | |
| XM_005255243.2:c.275T>C | XP_005255300.1:p.Met92Thr | |
| XM_011522453.1:c.626T>C | XP_011520755.1:p.Met209Thr | |
| XM_011522454.1:c.2T>C | XP_011520756.1:p.Met1Thr | |
| NM_021646.3:c.626T>C | NP_067678.1:p.Met209Thr | |
| XM_005255243.4:c.275T>C | XP_005255300.1:p.Met92Thr | |
| XM_011522453.2:c.626T>C | XP_011520755.1:p.Met209Thr | |
| XM_011522454.3:c.2T>C | XP_011520756.1:p.Met1Thr | |
| XM_017023121.2:c.2T>C | XP_016878610.1:p.Met1Thr | |
| NM_001303450.2:c.626T>C | NP_001290379.1:p.Met209Thr | |
| NM_021646.4:c.626T>C MANE Select | NP_067678.1:p.Met209Thr |