Linked Data
ClinVar Variation Id:
3621
dbSNP Id:
rs111033773
ExAC:
9:34649029 G / T
gnomAD v2:
9-34649029-G-T
gnomAD v3:
9-34649032-G-T
gnomAD v4:
9-34649032-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649032G>T , CM000671.2:g.34649032G>T | GRCh38 |
| NC_000009.11:g.34649029G>T , CM000671.1:g.34649029G>T | GRCh37 |
| NC_000009.10:g.34639029G>T | NCBI36 |
| NG_009029.1:g.7395G>T | |
| NG_028966.1:g.1848G>T | |
| NG_009029.2:g.7444G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*443G>T | ENSP00000509954.1:n.*443G>T | |
| ENST00000378842.8:c.855G>T MANE Select | ENSP00000368119.4:p.Lys285Asn | |
| ENST00000378842.7:c.855G>T | ENSP00000368119.3:p.Lys285Asn | |
| ENST00000450095.6:c.528G>T | ENSP00000401956.2:p.Lys176Asn | |
| ENST00000488412.2:n.111G>T | ||
| ENST00000489643.6:n.935G>T | ||
| ENST00000554550.5:c.*475G>T | ENSP00000451435.1:n.*475G>T | |
| ENST00000554638.5:n.1327G>T | ||
| ENST00000555020.5:n.1316G>T | ||
| ENST00000555086.5:n.962G>T | ||
| ENST00000555754.1:n.303G>T | ||
| ENST00000556278.1:c.432+576G>T | ENSP00000451792.1:n.432+576G>T | |
| ENST00000557706.5:n.1430G>T | ||
| NM_000155.3:c.855G>T | NP_000146.2:p.Lys285Asn | |
| NM_001258332.1:c.528G>T | NP_001245261.1:p.Lys176Asn | |
| NM_000155.4:c.855G>T MANE Select | NP_000146.2:p.Lys285Asn | |
| NM_001258332.2:c.528G>T | NP_001245261.1:p.Lys176Asn |