Linked Data
ClinVar Variation Id:
340235
dbSNP Id:
rs886057127
gnomAD v2:
21-46910765-A-C
gnomAD v3:
21-45490851-A-C
gnomAD v4:
21-45490851-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45490851A>C , CM000683.2:g.45490851A>C | GRCh38 |
| NC_000021.8:g.46910765A>C , CM000683.1:g.46910765A>C | GRCh37 |
| NC_000021.7:g.45735193A>C | NCBI36 |
| NG_011903.1:g.90669A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.2587A>C | ENSP00000347665.5:p.Arg863= | |
| ENST00000651438.1:c.2047A>C MANE Select | ENSP00000498485.1:p.Arg683= | |
| ENST00000342220.9:c.88A>C | ENSP00000339118.5:p.Arg30= | |
| ENST00000355480.9:c.2587A>C | ENSP00000347665.5:p.Arg863= | |
| ENST00000359759.8:c.3292A>C | ENSP00000352798.4:p.Arg1098= | |
| ENST00000400337.6:c.2047A>C | ENSP00000383191.2:p.Arg683= | |
| NM_030582.3:c.2587A>C | NP_085059.2:p.Arg863= | |
| NM_130444.2:c.3292A>C | NP_569711.2:p.Arg1098= | |
| NM_130445.3:c.2047A>C | NP_569712.2:p.Arg683= | |
| NM_030582.4:c.2587A>C | NP_085059.2:p.Arg863= | |
| NM_130444.3:c.3292A>C | NP_569711.2:p.Arg1098= | |
| NM_130445.4:c.2047A>C | NP_569712.2:p.Arg683= | |
| NM_001379500.1:c.2047A>C MANE Select | NP_001366429.1:p.Arg683= |