Linked Data
dbSNP Id:
rs149493100
ExAC:
11:70319201 T / C
gnomAD v2:
11-70319201-T-C
gnomAD v3:
11-70473096-T-C
gnomAD v4:
11-70473096-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473096T>C , CM000673.2:g.70473096T>C | GRCh38 |
| NC_000011.9:g.70319201T>C , CM000673.1:g.70319201T>C | GRCh37 |
| NC_000011.8:g.69996849T>C | NCBI36 |
| NG_042866.1:g.656701A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3556A>G | ENSP00000345193.7:p.Asn1186Asp | |
| ENST00000412252.6:c.1101A>G | ENSP00000414876.2:n.1101A>G | |
| ENST00000601538.6:c.5323A>G MANE Select | ENSP00000469689.2:p.Asn1775Asp | |
| ENST00000654939.1:c.2832A>G | ||
| ENST00000656230.1:c.4186A>G | ENSP00000499561.1:p.Asn1396Asp | |
| ENST00000659264.1:c.3613A>G | ENSP00000499270.1:p.Asn1205Asp | |
| ENST00000338508.8:c.3559A>G | ENSP00000345193.6:p.Asn1187Asp | |
| ENST00000357171.7:c.*327A>G | ENSP00000349694.4:n.*327A>G | |
| ENST00000409161.5:c.3535A>G | ENSP00000386491.1:p.Asn1179Asp | |
| ENST00000412252.5:c.1099A>G | ||
| ENST00000423696.6:c.4186A>G | ENSP00000394536.2:p.Asn1396Asp | |
| ENST00000424924.5:c.3160A>G | ENSP00000402944.1:p.Asn1054Asp | |
| ENST00000449833.6:c.3559A>G | ENSP00000399423.3:p.Asn1187Asp | |
| ENST00000601538.5:c.5323A>G | ENSP00000469689.2:p.Asn1775Asp | |
| ENST00000606715.3:n.2075A>G | ||
| NM_012309.4:c.5323A>G | NP_036441.2:p.Asn1775Asp | |
| NM_133266.4:c.3559A>G | NP_573573.2:p.Asn1187Asp | |
| NR_110766.1:n.1177A>G | ||
| XM_005277930.2:c.5323A>G | XP_005277987.1:p.Asn1775Asp | |
| XM_005277932.2:c.4186A>G | XP_005277989.1:p.Asn1396Asp | |
| XM_006718478.2:c.5293A>G | XP_006718541.1:p.Asn1765Asp | |
| XM_011544854.1:c.5335A>G | XP_011543156.1:p.Asn1779Asp | |
| XM_011544855.1:c.5314A>G | XP_011543157.1:p.Asn1772Asp | |
| XM_011544856.1:c.5308A>G | XP_011543158.1:p.Asn1770Asp | |
| XM_011544857.1:c.5287A>G | XP_011543159.1:p.Asn1763Asp | |
| XM_011544859.1:c.4198A>G | XP_011543161.1:p.Asn1400Asp | |
| XM_005277932.3:c.4186A>G | XP_005277989.1:p.Asn1396Asp | |
| XM_017017387.1:c.5323A>G | XP_016872876.1:p.Asn1775Asp | |
| XM_017017388.1:c.5323A>G | XP_016872877.1:p.Asn1775Asp | |
| XM_017017389.1:c.5296A>G | XP_016872878.1:p.Asn1766Asp | |
| XM_017017390.1:c.3613A>G | XP_016872879.1:p.Asn1205Asp | |
| NM_133266.5:c.3559A>G | NP_573573.2:p.Asn1187Asp | |
| NR_110766.2:n.1178A>G | ||
| NM_001379226.1:c.4186A>G | NP_001366155.1:p.Asn1396Asp | |
| NM_012309.5:c.5323A>G MANE Select | NP_036441.2:p.Asn1775Asp |