Linked Data
ClinVar Variation Id:
588631
ClinVar RCV Id:
RCV001051211
dbSNP Id:
rs80338734
gnomAD v3:
19-1401418-C-A
gnomAD v4:
19-1401418-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401418C>A , CM000681.2:g.1401418C>A | GRCh38 |
| NC_000019.9:g.1401417C>A , CM000681.1:g.1401417C>A | GRCh37 |
| NC_000019.8:g.1352417C>A | NCBI36 |
| NG_009785.1:g.5136G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252288.8:c.59G>T MANE Select | ENSP00000252288.1:p.Trp20Leu | |
| ENST00000447102.8:c.59G>T | ENSP00000403536.2:p.Trp20Leu | |
| ENST00000640762.1:c.59G>T | ENSP00000492031.1:p.Trp20Leu | |
| ENST00000252288.6:c.59G>T | ENSP00000252288.1:p.Trp20Leu | |
| ENST00000447102.7:c.59G>T | ENSP00000403536.2:p.Trp20Leu | |
| NM_000156.5:c.59G>T | NP_000147.1:p.Trp20Leu | |
| NM_138924.2:c.59G>T | NP_620279.1:p.Trp20Leu | |
| NM_000156.6:c.59G>T MANE Select | NP_000147.1:p.Trp20Leu | |
| NM_138924.3:c.59G>T | NP_620279.1:p.Trp20Leu |