Linked Data
dbSNP Id:
rs782374798
ExAC:
11:70332125 C / T
gnomAD v2:
11-70332125-C-T
gnomAD v4:
11-70486020-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70486020C>T , CM000673.2:g.70486020C>T | GRCh38 |
| NC_000011.9:g.70332125C>T , CM000673.1:g.70332125C>T | GRCh37 |
| NC_000011.8:g.70009773C>T | NCBI36 |
| NG_042866.1:g.643777G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.2506G>A | ENSP00000345193.7:p.Asp836Asn | |
| ENST00000412252.6:c.757+4283G>A | ENSP00000414876.2:n.757+4283G>A | |
| ENST00000601538.6:c.4273G>A MANE Select | ENSP00000469689.2:p.Asp1425Asn | |
| ENST00000654939.1:c.1701G>A | ||
| ENST00000656230.1:c.3136G>A | ENSP00000499561.1:p.Asp1046Asn | |
| ENST00000659264.1:c.2563G>A | ENSP00000499270.1:p.Asp855Asn | |
| ENST00000338508.8:c.2509G>A | ENSP00000345193.6:p.Asp837Asn | |
| ENST00000357171.7:c.718+4283G>A | ENSP00000349694.4:n.718+4283G>A | |
| ENST00000409161.5:c.2485G>A | ENSP00000386491.1:p.Asp829Asn | |
| ENST00000412252.5:c.755+4283G>A | ||
| ENST00000423696.6:c.3136G>A | ENSP00000394536.2:p.Asp1046Asn | |
| ENST00000424924.5:c.2110G>A | ENSP00000402944.1:p.Asp704Asn | |
| ENST00000449833.6:c.2509G>A | ENSP00000399423.3:p.Asp837Asn | |
| ENST00000601538.5:c.4273G>A | ENSP00000469689.2:p.Asp1425Asn | |
| NM_012309.4:c.4273G>A | NP_036441.2:p.Asp1425Asn | |
| NM_133266.4:c.2509G>A | NP_573573.2:p.Asp837Asn | |
| NR_110766.1:n.833+4283G>A | ||
| XM_005277930.2:c.4273G>A | XP_005277987.1:p.Asp1425Asn | |
| XM_005277932.2:c.3136G>A | XP_005277989.1:p.Asp1046Asn | |
| XM_006718478.2:c.4243G>A | XP_006718541.1:p.Asp1415Asn | |
| XM_011544854.1:c.4285G>A | XP_011543156.1:p.Asp1429Asn | |
| XM_011544855.1:c.4264G>A | XP_011543157.1:p.Asp1422Asn | |
| XM_011544856.1:c.4258G>A | XP_011543158.1:p.Asp1420Asn | |
| XM_011544857.1:c.4237G>A | XP_011543159.1:p.Asp1413Asn | |
| XM_011544858.1:c.4285G>A | XP_011543160.1:p.Asp1429Asn | |
| XM_011544859.1:c.3148G>A | XP_011543161.1:p.Asp1050Asn | |
| XM_005277932.3:c.3136G>A | XP_005277989.1:p.Asp1046Asn | |
| XM_017017387.1:c.4273G>A | XP_016872876.1:p.Asp1425Asn | |
| XM_017017388.1:c.4273G>A | XP_016872877.1:p.Asp1425Asn | |
| XM_017017389.1:c.4246G>A | XP_016872878.1:p.Asp1416Asn | |
| XM_017017390.1:c.2563G>A | XP_016872879.1:p.Asp855Asn | |
| NM_133266.5:c.2509G>A | NP_573573.2:p.Asp837Asn | |
| NR_110766.2:n.834+4283G>A | ||
| NM_001379226.1:c.3136G>A | NP_001366155.1:p.Asp1046Asn | |
| NM_012309.5:c.4273G>A MANE Select | NP_036441.2:p.Asp1425Asn |