Linked Data
dbSNP Id:
rs750760089
ExAC:
5:37051940 T / A
gnomAD v2:
5-37051940-T-A
gnomAD v4:
5-37051838-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37051838T>A , CM000667.2:g.37051838T>A | GRCh38 |
| NC_000005.9:g.37051940T>A , CM000667.1:g.37051940T>A | GRCh37 |
| NC_000005.8:g.37087697T>A | NCBI36 |
| NG_006987.1:g.179956T>A | |
| NG_006987.2:g.179956T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.7014T>A MANE Select | ENSP00000282516.8:p.Ala2338= | |
| ENST00000652901.1:c.7014T>A | ENSP00000499536.1:p.Ala2338= | |
| ENST00000282516.12:c.7014T>A | ENSP00000282516.8:p.Ala2338= | |
| ENST00000448238.2:c.7014T>A | ENSP00000406266.2:p.Ala2338= | |
| ENST00000514335.1:n.896T>A | ||
| ENST00000621733.1:c.1-12740T>A | ENSP00000480694.1:n.1-12740T>A | |
| NM_015384.4:c.7014T>A | NP_056199.2:p.Ala2338= | |
| NM_133433.3:c.7014T>A | NP_597677.2:p.Ala2338= | |
| XM_005248280.2:c.7014T>A | XP_005248337.1:p.Ala2338= | |
| XM_005248282.3:c.6270T>A | XP_005248339.2:p.Ala2090= | |
| XM_006714467.2:c.7014T>A | XP_006714530.1:p.Ala2338= | |
| XM_006714468.1:c.6816T>A | XP_006714531.1:p.Ala2272= | |
| XM_011514014.1:c.6633T>A | XP_011512316.1:p.Ala2211= | |
| XM_011514015.1:c.7014T>A | XP_011512317.1:p.Ala2338= | |
| XM_005248280.3:c.7014T>A | XP_005248337.1:p.Ala2338= | |
| XM_005248282.5:c.6354T>A | XP_005248339.3:p.Ala2118= | |
| XM_006714468.2:c.6816T>A | XP_006714531.1:p.Ala2272= | |
| XM_017009329.1:c.7014T>A | XP_016864818.1:p.Ala2338= | |
| XM_017009330.2:c.5397T>A | XP_016864819.1:p.Ala1799= | |
| XM_017009331.1:c.5388T>A | XP_016864820.1:p.Ala1796= | |
| NM_133433.4:c.7014T>A MANE Select | NP_597677.2:p.Ala2338= | |
| NM_015384.5:c.7014T>A | NP_056199.2:p.Ala2338= |