Linked Data
dbSNP Id:
rs782688658
ExAC:
11:70319273 C / T
gnomAD v2:
11-70319273-C-T
gnomAD v4:
11-70473168-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473168C>T , CM000673.2:g.70473168C>T | GRCh38 |
| NC_000011.9:g.70319273C>T , CM000673.1:g.70319273C>T | GRCh37 |
| NC_000011.8:g.69996921C>T | NCBI36 |
| NG_042866.1:g.656629G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3484G>A | ENSP00000345193.7:p.Asp1162Asn | |
| ENST00000412252.6:c.1029G>A | ENSP00000414876.2:n.1029G>A | |
| ENST00000601538.6:c.5251G>A MANE Select | ENSP00000469689.2:p.Asp1751Asn | |
| ENST00000654939.1:c.2760G>A | ||
| ENST00000656230.1:c.4114G>A | ENSP00000499561.1:p.Asp1372Asn | |
| ENST00000659264.1:c.3541G>A | ENSP00000499270.1:p.Asp1181Asn | |
| ENST00000338508.8:c.3487G>A | ENSP00000345193.6:p.Asp1163Asn | |
| ENST00000357171.7:c.*255G>A | ENSP00000349694.4:n.*255G>A | |
| ENST00000409161.5:c.3463G>A | ENSP00000386491.1:p.Asp1155Asn | |
| ENST00000412252.5:c.1027G>A | ||
| ENST00000423696.6:c.4114G>A | ENSP00000394536.2:p.Asp1372Asn | |
| ENST00000424924.5:c.3088G>A | ENSP00000402944.1:p.Asp1030Asn | |
| ENST00000449833.6:c.3487G>A | ENSP00000399423.3:p.Asp1163Asn | |
| ENST00000601538.5:c.5251G>A | ENSP00000469689.2:p.Asp1751Asn | |
| ENST00000606715.3:n.2003G>A | ||
| NM_012309.4:c.5251G>A | NP_036441.2:p.Asp1751Asn | |
| NM_133266.4:c.3487G>A | NP_573573.2:p.Asp1163Asn | |
| NR_110766.1:n.1105G>A | ||
| XM_005277930.2:c.5251G>A | XP_005277987.1:p.Asp1751Asn | |
| XM_005277932.2:c.4114G>A | XP_005277989.1:p.Asp1372Asn | |
| XM_006718478.2:c.5221G>A | XP_006718541.1:p.Asp1741Asn | |
| XM_011544854.1:c.5263G>A | XP_011543156.1:p.Asp1755Asn | |
| XM_011544855.1:c.5242G>A | XP_011543157.1:p.Asp1748Asn | |
| XM_011544856.1:c.5236G>A | XP_011543158.1:p.Asp1746Asn | |
| XM_011544857.1:c.5215G>A | XP_011543159.1:p.Asp1739Asn | |
| XM_011544859.1:c.4126G>A | XP_011543161.1:p.Asp1376Asn | |
| XM_005277932.3:c.4114G>A | XP_005277989.1:p.Asp1372Asn | |
| XM_017017387.1:c.5251G>A | XP_016872876.1:p.Asp1751Asn | |
| XM_017017388.1:c.5251G>A | XP_016872877.1:p.Asp1751Asn | |
| XM_017017389.1:c.5224G>A | XP_016872878.1:p.Asp1742Asn | |
| XM_017017390.1:c.3541G>A | XP_016872879.1:p.Asp1181Asn | |
| NM_133266.5:c.3487G>A | NP_573573.2:p.Asp1163Asn | |
| NR_110766.2:n.1106G>A | ||
| NM_001379226.1:c.4114G>A | NP_001366155.1:p.Asp1372Asn | |
| NM_012309.5:c.5251G>A MANE Select | NP_036441.2:p.Asp1751Asn |