Linked Data
dbSNP Id:
rs746778068
ExAC:
10:127477442 A / T
gnomAD v2:
10-127477442-A-T
gnomAD v4:
10-125788873-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788873A>T , CM000672.2:g.125788873A>T | GRCh38 |
| NC_000010.10:g.127477442A>T , CM000672.1:g.127477442A>T | GRCh37 |
| NC_000010.9:g.127467432A>T | NCBI36 |
| NG_011557.1:g.39396T>A | |
| NG_011557.2:g.39396T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.793T>A | ENSP00000518871.1:p.Cys265Ser | |
| ENST00000368797.10:c.793T>A MANE Select | ENSP00000357787.4:p.Cys265Ser | |
| ENST00000465577.6:c.813T>A | ||
| ENST00000648427.1:c.*791T>A | ENSP00000497909.1:n.*791T>A | |
| ENST00000649536.1:c.793T>A | ENSP00000497817.1:p.Cys265Ser | |
| ENST00000650472.1:n.3179T>A | ||
| ENST00000650524.1:c.706T>A | ENSP00000498108.1:n.706T>A | |
| ENST00000650587.1:c.874T>A | ENSP00000497366.1:p.Cys292Ser | |
| ENST00000368786.5:c.793T>A | ENSP00000357775.1:p.Cys265Ser | |
| ENST00000368797.8:c.793T>A | ENSP00000357787.4:p.Cys265Ser | |
| ENST00000464267.1:n.890T>A | ||
| ENST00000465577.5:n.435T>A | ||
| ENST00000470483.1:n.481T>A | ||
| ENST00000484541.5:n.566T>A | ||
| ENST00000616800.4:c.161-3613T>A | ||
| ENST00000622016.4:c.241-3034T>A | ENSP00000483041.1:n.241-3034T>A | |
| NM_000375.2:c.793T>A | NP_000366.1:p.Cys265Ser | |
| XM_005270137.2:c.874T>A | XP_005270194.1:p.Cys292Ser | |
| XM_005270138.2:c.793T>A | XP_005270195.1:p.Cys265Ser | |
| XM_005270139.2:c.661-3034T>A | XP_005270196.1:n.661-3034T>A | |
| XM_006717960.2:c.874T>A | XP_006718023.1:p.Cys292Ser | |
| XM_011540127.1:c.661-3613T>A | XP_011538429.1:n.661-3613T>A | |
| XR_246103.2:n.973T>A | ||
| XR_945810.1:n.1203T>A | ||
| NM_000375.3:c.793T>A MANE Select | NP_000366.1:p.Cys265Ser | |
| NM_001324036.1:c.874T>A | NP_001310965.1:p.Cys292Ser | |
| NM_001324037.1:c.793T>A | NP_001310966.1:p.Cys265Ser | |
| NM_001324038.1:c.712T>A | NP_001310967.1:p.Cys238Ser | |
| NR_136675.1:n.878T>A | ||
| NR_136676.1:n.1305T>A | ||
| NR_136677.1:n.927-3034T>A | ||
| NR_136678.1:n.789T>A | ||
| XM_011540127.2:c.661-3613T>A | XP_011538429.1:n.661-3613T>A | |
| XM_017016611.2:c.874T>A | XP_016872100.2:p.Cys292Ser | |
| XM_017016612.2:c.661-3034T>A | XP_016872101.1:n.661-3034T>A | |
| XM_024448154.1:c.793T>A | XP_024303922.1:p.Cys265Ser | |
| XR_002957010.1:n.2132T>A | ||
| XR_246103.3:n.988T>A | ||
| XR_945810.2:n.1218T>A | ||
| NM_001324036.2:c.874T>A | NP_001310965.1:p.Cys292Ser | |
| NM_001324037.2:c.793T>A | NP_001310966.1:p.Cys265Ser | |
| NM_001324038.2:c.712T>A | NP_001310967.1:p.Cys238Ser | |
| NR_136675.2:n.868T>A | ||
| NR_136676.2:n.1295T>A | ||
| NR_136678.2:n.779T>A | ||
| NR_136677.2:n.917-3034T>A |