Linked Data
dbSNP Id:
rs2046836420
gnomAD v3:
9-120962747-T-G
gnomAD v4:
9-120962747-T-G
MyVariant Identifiers:
chr9:g.123725025T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120962747T>G , CM000671.2:g.120962747T>G | GRCh38 |
| NC_000009.11:g.123725025T>G , CM000671.1:g.123725025T>G | GRCh37 |
| NC_000009.10:g.122764846T>G | NCBI36 |
| NG_007364.1:g.92530A>C , LRG_28:g.92530A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1462A>C | ||
| ENST00000696279.1:c.4748A>C | ||
| ENST00000696280.1:n.4517A>C | ||
| ENST00000696281.1:c.4446A>C | ENSP00000512521.1:p.Arg1482= | |
| ENST00000697921.1:n.3306A>C | ||
| ENST00000697922.1:c.*4418A>C | ENSP00000513478.1:n.*4418A>C | |
| ENST00000697923.1:n.4873A>C | ||
| ENST00000223642.3:c.4428A>C MANE Select | ENSP00000223642.1:p.Arg1476= | |
| ENST00000223642.2:c.4428A>C | ENSP00000223642.1:p.Arg1476= | |
| NM_001735.2:c.4428A>C , LRG_28t1:c.4428A>C | NP_001726.2:p.Arg1476= | |
| XM_011518980.1:c.4443A>C | XP_011517282.1:p.Arg1481= | |
| NM_001317163.1:c.4446A>C | NP_001304092.1:p.Arg1482= | |
| NM_001317163.2:c.4446A>C | NP_001304092.1:p.Arg1482= | |
| NM_001735.3:c.4428A>C MANE Select | NP_001726.2:p.Arg1476= |