Linked Data
dbSNP Id:
rs747935539
ExAC:
2:32476164 T / A
gnomAD v2:
2-32476164-T-A
gnomAD v4:
2-32251095-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32251095T>A , CM000664.2:g.32251095T>A | GRCh38 |
| NC_000002.11:g.32476164T>A , CM000664.1:g.32476164T>A | GRCh37 |
| NC_000002.10:g.32329668T>A | NCBI36 |
| NG_041780.1:g.19649A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.-76+5680A>T | ENSP00000498301.2:n.-76+5680A>T | |
| ENST00000402280.6:c.769A>T MANE Select | ENSP00000385428.1:p.Asn257Tyr | |
| ENST00000404025.3:c.769A>T | ENSP00000385090.3:p.Asn257Tyr | |
| ENST00000652197.1:c.769A>T | ENSP00000498301.1:p.Asn257Tyr | |
| ENST00000342905.10:c.262+1324A>T | ENSP00000339666.6:n.262+1324A>T | |
| ENST00000360906.9:c.769A>T | ENSP00000354159.5:p.Asn257Tyr | |
| ENST00000402280.5:c.769A>T | ENSP00000385428.1:p.Asn257Tyr | |
| ENST00000404025.2:c.769A>T | ENSP00000385090.2:p.Asn257Tyr | |
| NM_001199138.1:c.769A>T | NP_001186067.1:p.Asn257Tyr | |
| NM_001199139.1:c.769A>T | NP_001186068.1:p.Asn257Tyr | |
| NM_001302504.1:c.262+1324A>T | NP_001289433.1:n.262+1324A>T | |
| NM_021209.4:c.769A>T | NP_067032.3:p.Asn257Tyr | |
| XM_011533008.1:c.769A>T | XP_011531310.1:p.Asn257Tyr | |
| XM_017004619.1:c.769A>T | XP_016860108.1:p.Asn257Tyr | |
| XR_001738872.1:n.1030A>T | ||
| NM_001199138.2:c.769A>T MANE Select | NP_001186067.1:p.Asn257Tyr |