Linked Data
ClinVar Variation Id:
265525
dbSNP Id:
rs201854898
gnomAD v2:
21-47552300-G-C
gnomAD v3:
21-46132386-G-C
gnomAD v4:
21-46132386-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132386G>C , CM000683.2:g.46132386G>C | GRCh38 |
| NC_000021.8:g.47552300G>C , CM000683.1:g.47552300G>C | GRCh37 |
| NC_000021.7:g.46376728G>C | NCBI36 |
| NG_008675.1:g.39268G>C , LRG_476:g.39268G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2894G>C MANE Select | ENSP00000300527.4:p.Arg965Pro | |
| ENST00000300527.8:c.2894G>C | ENSP00000300527.4:p.Arg965Pro | |
| NM_001849.3:c.2894G>C , LRG_476t1:c.2894G>C | NP_001840.3:p.Arg965Pro | |
| XM_011529451.1:c.2894G>C | XP_011527753.1:p.Arg965Pro | |
| XM_011529452.1:c.2894G>C | XP_011527754.1:p.Arg965Pro | |
| XR_937438.1:n.2971G>C | ||
| XR_937438.2:n.2978G>C | ||
| NM_001849.4:c.2894G>C MANE Select | NP_001840.3:p.Arg965Pro |