Linked Data
ClinVar Variation Id:
495700
ClinVar RCV Id:
RCV001389830
dbSNP Id:
rs376578742
ExAC:
9:6620217 G / T
gnomAD v2:
9-6620217-G-T
gnomAD v4:
9-6620217-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6620217G>T , CM000671.2:g.6620217G>T | GRCh38 |
| NC_000009.11:g.6620217G>T , CM000671.1:g.6620217G>T | GRCh37 |
| NC_000009.10:g.6610217G>T | NCBI36 |
| NG_016397.1:g.30476C>A , LRG_643:g.30476C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.437C>A MANE Select | ENSP00000370737.4:p.Thr146Lys | |
| ENST00000639020.1:c.32C>A | ENSP00000491392.1:p.Thr11Lys | |
| ENST00000639364.1:n.137C>A | ||
| ENST00000639840.1:c.143C>A | ENSP00000491161.1:p.Thr48Lys | |
| ENST00000639954.1:n.179-9861C>A | ||
| ENST00000640592.1:n.320C>A | ||
| ENST00000321612.6:c.437C>A | ENSP00000370737.3:p.Thr146Lys | |
| NM_000170.2:c.437C>A , LRG_643t1:c.437C>A | NP_000161.2:p.Thr146Lys | |
| NM_000170.3:c.437C>A MANE Select | NP_000161.2:p.Thr146Lys |