Linked Data
ClinVar Variation Id:
402450
dbSNP Id:
rs41258306
ExAC:
9:123716103 T / C
gnomAD v2:
9-123716103-T-C
gnomAD v3:
9-120953825-T-C
gnomAD v4:
9-120953825-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120953825T>C , CM000671.2:g.120953825T>C | GRCh38 |
| NC_000009.11:g.123716103T>C , CM000671.1:g.123716103T>C | GRCh37 |
| NC_000009.10:g.122755924T>C | NCBI36 |
| NG_007364.1:g.101452A>G , LRG_28:g.101452A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.5256A>G | ||
| ENST00000696279.1:c.5126A>G | ||
| ENST00000696280.1:n.4895A>G | ||
| ENST00000696281.1:c.4824A>G | ENSP00000512521.1:p.Lys1608= | |
| ENST00000697921.1:n.3684A>G | ||
| ENST00000697922.1:c.*4796A>G | ENSP00000513478.1:n.*4796A>G | |
| ENST00000697923.1:n.8667A>G | ||
| ENST00000223642.3:c.4806A>G MANE Select | ENSP00000223642.1:p.Lys1602= | |
| ENST00000223642.2:c.4806A>G | ENSP00000223642.1:p.Lys1602= | |
| NM_001735.2:c.4806A>G , LRG_28t1:c.4806A>G | NP_001726.2:p.Lys1602= | |
| XM_011518980.1:c.4821A>G | XP_011517282.1:p.Lys1607= | |
| NM_001317163.1:c.4824A>G | NP_001304092.1:p.Lys1608= | |
| NM_001317163.2:c.4824A>G | NP_001304092.1:p.Lys1608= | |
| NM_001735.3:c.4806A>G MANE Select | NP_001726.2:p.Lys1602= |