Linked Data
dbSNP Id:
rs1250257148
gnomAD v2:
15-89424659-T-C
gnomAD v3:
15-88881428-T-C
gnomAD v4:
15-88881428-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881428T>C , CM000677.2:g.88881428T>C | GRCh38 |
| NC_000015.9:g.89424659T>C , CM000677.1:g.89424659T>C | GRCh37 |
| NC_000015.8:g.87225663T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.422A>G MANE Select | ENSP00000352606.4:p.Tyr141Cys | |
| ENST00000359595.7:c.422A>G | ENSP00000352606.3:p.Tyr141Cys | |
| ENST00000558770.5:c.422A>G | ENSP00000456458.1:p.Tyr141Cys | |
| ENST00000562281.1:c.422A>G | ENSP00000456985.1:p.Tyr141Cys | |
| ENST00000562889.5:c.608A>G | ENSP00000457180.1:p.Tyr203Cys | |
| ENST00000563808.1:n.524A>G | ||
| NM_001307952.1:c.608A>G | NP_001294881.1:p.Tyr203Cys | |
| NM_178232.2:c.422A>G | NP_839946.1:p.Tyr141Cys | |
| NM_178232.3:c.422A>G | NP_839946.1:p.Tyr141Cys | |
| XM_011521261.1:c.554A>G | XP_011519563.1:p.Tyr185Cys | |
| XR_243204.1:n.637A>G | ||
| XR_931756.1:n.743A>G | ||
| XM_017021934.2:c.608A>G | XP_016877423.1:p.Tyr203Cys | |
| XM_017021935.2:c.43A>G | XP_016877424.1:p.Met15Val | |
| XM_017021936.2:c.43A>G | XP_016877425.1:p.Met15Val | |
| XR_001751098.2:n.755A>G | ||
| XR_931756.3:n.756A>G | ||
| NM_001307952.2:c.608A>G | NP_001294881.1:p.Tyr203Cys | |
| NM_178232.4:c.422A>G MANE Select | NP_839946.1:p.Tyr141Cys |