Linked Data
ClinVar Variation Id:
1420180
ClinVar RCV Id:
RCV001943483
dbSNP Id:
rs1380413370
gnomAD v2:
6-42689642-G-T
gnomAD v3:
6-42721904-G-T
gnomAD v4:
6-42721904-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721904G>T , CM000668.2:g.42721904G>T | GRCh38 |
| NC_000006.11:g.42689642G>T , CM000668.1:g.42689642G>T | GRCh37 |
| NC_000006.10:g.42797620G>T | NCBI36 |
| NG_009176.1:g.5717C>A | |
| NG_009176.2:g.5717C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.431C>A MANE Select | ENSP00000230381.5:p.Thr144Lys | |
| ENST00000230381.6:c.431C>A | ENSP00000230381.5:p.Thr144Lys | |
| NM_000322.4:c.431C>A | NP_000313.2:p.Thr144Lys | |
| XR_427834.2:n.1086C>A | ||
| XR_926295.1:n.1086C>A | ||
| XR_427834.4:n.1136C>A | ||
| XR_926295.3:n.1136C>A | ||
| NM_000322.5:c.431C>A MANE Select | NP_000313.2:p.Thr144Lys |