Linked Data
ClinVar Variation Id:
180300
ClinVar RCV Id:
RCV000157147
RCV000659465
RCV000724350
RCV001000409
RCV002277312
RCV002229380
RCV003330515
dbSNP Id:
rs143859495
ExAC:
9:137727030 G / A
gnomAD v2:
9-137727030-G-A
gnomAD v3:
9-134835184-G-A
gnomAD v4:
9-134835184-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835184G>A , CM000671.2:g.134835184G>A | GRCh38 |
| NC_000009.11:g.137727030G>A , CM000671.1:g.137727030G>A | GRCh37 |
| NC_000009.10:g.136866851G>A | NCBI36 |
| NG_008030.1:g.198379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5350G>A | ENSP00000360885.4:p.Ala1784Thr | |
| ENST00000371817.8:c.5350G>A MANE Select | ENSP00000360882.3:p.Ala1784Thr | |
| ENST00000371817.7:c.5350G>A | ENSP00000360882.3:p.Ala1784Thr | |
| ENST00000371820.3:c.608G>A | ||
| ENST00000618395.4:c.5350G>A | ENSP00000481360.1:p.Ala1784Thr | |
| NM_000093.4:c.5350G>A | NP_000084.3:p.Ala1784Thr | |
| NM_001278074.1:c.5350G>A | NP_001265003.1:p.Ala1784Thr | |
| NR_103451.2:n.71-14975C>T | ||
| NM_000093.5:c.5350G>A MANE Select | NP_000084.3:p.Ala1784Thr |