Linked Data
ClinVar Variation Id:
288655
dbSNP Id:
rs746012569
gnomAD v2:
21-47552374-C-T
gnomAD v3:
21-46132460-C-T
gnomAD v4:
21-46132460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46132460C>T , CM000683.2:g.46132460C>T | GRCh38 |
| NC_000021.8:g.47552374C>T , CM000683.1:g.47552374C>T | GRCh37 |
| NC_000021.7:g.46376802C>T | NCBI36 |
| NG_008675.1:g.39342C>T , LRG_476:g.39342C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300527.9:c.2968C>T MANE Select | ENSP00000300527.4:p.Leu990= | |
| ENST00000300527.8:c.2968C>T | ENSP00000300527.4:p.Leu990= | |
| NM_001849.3:c.2968C>T , LRG_476t1:c.2968C>T | NP_001840.3:p.Leu990= | |
| XM_011529451.1:c.2968C>T | XP_011527753.1:p.Leu990= | |
| XM_011529452.1:c.2968C>T | XP_011527754.1:p.Leu990= | |
| XR_937438.1:n.3045C>T | ||
| XR_937438.2:n.3052C>T | ||
| NM_001849.4:c.2968C>T MANE Select | NP_001840.3:p.Leu990= |