Linked Data
ClinVar Variation Id:
5307
ClinVar RCV Id:
RCV000005631
dbSNP Id:
rs104894650
ExAC:
17:16852066 G / T
gnomAD v2:
17-16852066-G-T
gnomAD v3:
17-16948752-G-T
gnomAD v4:
17-16948752-G-T
PubMed:
PMID:16007087
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948752G>T , CM000679.2:g.16948752G>T | GRCh38 |
| NC_000017.10:g.16852066G>T , CM000679.1:g.16852066G>T | GRCh37 |
| NC_000017.9:g.16792791G>T | NCBI36 |
| NG_007281.1:g.28337C>A , LRG_120:g.28337C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261652.7:c.431C>A MANE Select | ENSP00000261652.2:p.Ser144Ter | |
| ENST00000261652.6:c.431C>A | ENSP00000261652.2:p.Ser144Ter | |
| ENST00000579315.5:c.431C>A | ENSP00000464069.1:p.Ser144Ter | |
| ENST00000581616.2:n.434C>A | ||
| ENST00000582931.5:n.335C>A | ||
| ENST00000583789.1:c.293C>A | ENSP00000462952.1:p.Ser98Ter | |
| ENST00000584950.5:c.293C>A | ENSP00000463582.1:p.Ser98Ter | |
| NM_012452.2:c.431C>A , LRG_120t1:c.431C>A | NP_036584.1:p.Ser144Ter | |
| NM_012452.3:c.431C>A MANE Select | NP_036584.1:p.Ser144Ter |