Linked Data
ClinVar Variation Id:
429874
ClinVar RCV Id:
RCV000493155
dbSNP Id:
rs1131691644
gnomAD v4:
19-1398983-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1398983T>G , CM000681.2:g.1398983T>G | GRCh38 |
| NC_000019.9:g.1398982T>G , CM000681.1:g.1398982T>G | GRCh37 |
| NC_000019.8:g.1349982T>G | NCBI36 |
| NG_009785.1:g.7571A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252288.8:c.503A>C MANE Select | ENSP00000252288.1:p.Tyr168Ser | |
| ENST00000447102.8:c.503A>C | ENSP00000403536.2:p.Tyr168Ser | |
| ENST00000591788.3:c.186A>C | ||
| ENST00000640164.1:n.336A>C | ||
| ENST00000640762.1:c.434A>C | ENSP00000492031.1:p.Tyr145Ser | |
| ENST00000252288.6:c.503A>C | ENSP00000252288.1:p.Tyr168Ser | |
| ENST00000447102.7:c.503A>C | ENSP00000403536.2:p.Tyr168Ser | |
| ENST00000591788.2:c.188A>C | ENSP00000466341.2:p.Tyr63Ser | |
| NM_000156.5:c.503A>C | NP_000147.1:p.Tyr168Ser | |
| NM_138924.2:c.503A>C | NP_620279.1:p.Tyr168Ser | |
| NM_000156.6:c.503A>C MANE Select | NP_000147.1:p.Tyr168Ser | |
| NM_138924.3:c.503A>C | NP_620279.1:p.Tyr168Ser |