Linked Data
dbSNP Id:
rs747646124
ExAC:
9:12702271 G / A
gnomAD v2:
9-12702271-G-A
gnomAD v4:
9-12702271-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702271G>A , CM000671.2:g.12702271G>A | GRCh38 |
| NC_000009.11:g.12702271G>A , CM000671.1:g.12702271G>A | GRCh37 |
| NC_000009.10:g.12692271G>A | NCBI36 |
| NG_011705.1:g.13886G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.914G>A (TYRP1) MANE Select | ENSP00000373570.4:p.Ser305Asn | |
| ENST00000381136.2:c.44G>A (TYRP1) | ENSP00000370528.2:p.Gly15Asp | |
| ENST00000381142.3:n.151G>A (TYRP1) | ||
| ENST00000388918.9:c.914G>A (TYRP1) | ENSP00000373570.4:p.Ser305Asn | |
| ENST00000470909.1:n.172G>A (TYRP1) | ||
| NM_000550.2:c.914G>A (TYRP1) | NP_000541.1:p.Ser305Asn | |
| NR_125775.1:n.317-1645C>T (LURAP1L-AS1) | ||
| XR_001746372.2:n.898G>A (TYRP1) | ||
| NM_000550.3:c.914G>A (TYRP1) MANE Select | NP_000541.1:p.Ser305Asn |