Linked Data
ClinVar Variation Id:
2696685
ClinVar RCV Id:
RCV003543103
dbSNP Id:
rs754022916
ExAC:
9:12708040 T / C
gnomAD v2:
9-12708040-T-C
gnomAD v4:
9-12708040-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12708040T>C , CM000671.2:g.12708040T>C | GRCh38 |
| NC_000009.11:g.12708040T>C , CM000671.1:g.12708040T>C | GRCh37 |
| NC_000009.10:g.12698040T>C | NCBI36 |
| NG_011705.1:g.19655T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1305T>C (TYRP1) MANE Select | ENSP00000373570.4:p.Asn435= | |
| ENST00000381136.2:c.435T>C (TYRP1) | ENSP00000370528.2:p.Asn145= | |
| ENST00000381142.3:n.499-937T>C (TYRP1) | ||
| ENST00000388918.9:c.1305T>C (TYRP1) | ENSP00000373570.4:p.Asn435= | |
| ENST00000473504.1:n.370T>C (TYRP1) | ||
| NM_000550.2:c.1305T>C (TYRP1) | NP_000541.1:p.Asn435= | |
| NR_125775.1:n.317-7414A>G (LURAP1L-AS1) | ||
| XR_001746372.2:n.1289T>C (TYRP1) | ||
| NM_000550.3:c.1305T>C (TYRP1) MANE Select | NP_000541.1:p.Asn435= |