Linked Data
dbSNP Id:
rs773164199
ExAC:
5:37020881 A / T
gnomAD v2:
5-37020881-A-T
gnomAD v4:
5-37020779-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37020779A>T , CM000667.2:g.37020779A>T | GRCh38 |
| NC_000005.9:g.37020881A>T , CM000667.1:g.37020881A>T | GRCh37 |
| NC_000005.8:g.37056638A>T | NCBI36 |
| NG_006987.1:g.148897A>T | |
| NG_006987.2:g.148897A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.5230A>T MANE Select | ENSP00000282516.8:p.Asn1744Tyr | |
| ENST00000652901.1:c.5230A>T | ENSP00000499536.1:p.Asn1744Tyr | |
| ENST00000282516.12:c.5230A>T | ENSP00000282516.8:p.Asn1744Tyr | |
| ENST00000448238.2:c.5230A>T | ENSP00000406266.2:p.Asn1744Tyr | |
| ENST00000621733.1:c.1-43799A>T | ENSP00000480694.1:n.1-43799A>T | |
| NM_015384.4:c.5230A>T | NP_056199.2:p.Asn1744Tyr | |
| NM_133433.3:c.5230A>T | NP_597677.2:p.Asn1744Tyr | |
| XM_005248280.2:c.5230A>T | XP_005248337.1:p.Asn1744Tyr | |
| XM_005248282.3:c.4486A>T | XP_005248339.2:p.Asn1496Tyr | |
| XM_006714467.2:c.5230A>T | XP_006714530.1:p.Asn1744Tyr | |
| XM_006714468.1:c.5032A>T | XP_006714531.1:p.Asn1678Tyr | |
| XM_011514014.1:c.4849A>T | XP_011512316.1:p.Asn1617Tyr | |
| XM_011514015.1:c.5230A>T | XP_011512317.1:p.Asn1744Tyr | |
| XM_005248280.3:c.5230A>T | XP_005248337.1:p.Asn1744Tyr | |
| XM_005248282.5:c.4570A>T | XP_005248339.3:p.Asn1524Tyr | |
| XM_006714468.2:c.5032A>T | XP_006714531.1:p.Asn1678Tyr | |
| XM_017009329.1:c.5230A>T | XP_016864818.1:p.Asn1744Tyr | |
| XM_017009330.2:c.3613A>T | XP_016864819.1:p.Asn1205Tyr | |
| XM_017009331.1:c.3604A>T | XP_016864820.1:p.Asn1202Tyr | |
| NM_133433.4:c.5230A>T MANE Select | NP_597677.2:p.Asn1744Tyr | |
| NM_015384.5:c.5230A>T | NP_056199.2:p.Asn1744Tyr |