Linked Data
ClinVar Variation Id:
2400658
ClinVar RCV Id:
RCV004238483
dbSNP Id:
rs775044143
ExAC:
19:10625261 C / T
gnomAD v2:
19-10625261-C-T
gnomAD v4:
19-10514585-C-T
COSMIC:
COSM6365613
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10514585C>T , CM000681.2:g.10514585C>T | GRCh38 |
| NC_000019.9:g.10625261C>T , CM000681.1:g.10625261C>T | GRCh37 |
| NC_000019.8:g.10486261C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333430.6:c.427G>A MANE Select | ENSP00000328472.3:p.Ala143Thr | |
| ENST00000333430.5:c.427G>A | ENSP00000328472.3:p.Ala143Thr | |
| ENST00000439028.3:c.427G>A | ENSP00000416915.2:p.Ala143Thr | |
| ENST00000617721.1:c.249+178G>A | ENSP00000481239.1:n.249+178G>A | |
| NM_001166215.1:c.427G>A | NP_001159687.1:p.Ala143Thr | |
| NM_030760.4:c.427G>A | NP_110387.1:p.Ala143Thr | |
| NM_030760.5:c.427G>A MANE Select | NP_110387.1:p.Ala143Thr | |
| NM_001166215.2:c.427G>A | NP_001159687.1:p.Ala143Thr |