Linked Data
ClinVar Variation Id:
1299858
ClinVar RCV Id:
RCV001730286
dbSNP Id:
rs782253326
ExAC:
11:70332118 C / T
gnomAD v2:
11-70332118-C-T
gnomAD v3:
11-70486013-C-T
gnomAD v4:
11-70486013-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70486013C>T , CM000673.2:g.70486013C>T | GRCh38 |
| NC_000011.9:g.70332118C>T , CM000673.1:g.70332118C>T | GRCh37 |
| NC_000011.8:g.70009766C>T | NCBI36 |
| NG_042866.1:g.643784G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.2513G>A | ENSP00000345193.7:p.Arg838Gln | |
| ENST00000412252.6:c.757+4290G>A | ENSP00000414876.2:n.757+4290G>A | |
| ENST00000601538.6:c.4280G>A MANE Select | ENSP00000469689.2:p.Arg1427Gln | |
| ENST00000654939.1:c.1708G>A | ||
| ENST00000656230.1:c.3143G>A | ENSP00000499561.1:p.Arg1048Gln | |
| ENST00000659264.1:c.2570G>A | ENSP00000499270.1:p.Arg857Gln | |
| ENST00000338508.8:c.2516G>A | ENSP00000345193.6:p.Arg839Gln | |
| ENST00000357171.7:c.718+4290G>A | ENSP00000349694.4:n.718+4290G>A | |
| ENST00000409161.5:c.2492G>A | ENSP00000386491.1:p.Arg831Gln | |
| ENST00000412252.5:c.755+4290G>A | ||
| ENST00000423696.6:c.3143G>A | ENSP00000394536.2:p.Arg1048Gln | |
| ENST00000424924.5:c.2117G>A | ENSP00000402944.1:p.Arg706Gln | |
| ENST00000449833.6:c.2516G>A | ENSP00000399423.3:p.Arg839Gln | |
| ENST00000601538.5:c.4280G>A | ENSP00000469689.2:p.Arg1427Gln | |
| NM_012309.4:c.4280G>A | NP_036441.2:p.Arg1427Gln | |
| NM_133266.4:c.2516G>A | NP_573573.2:p.Arg839Gln | |
| NR_110766.1:n.833+4290G>A | ||
| XM_005277930.2:c.4280G>A | XP_005277987.1:p.Arg1427Gln | |
| XM_005277932.2:c.3143G>A | XP_005277989.1:p.Arg1048Gln | |
| XM_006718478.2:c.4250G>A | XP_006718541.1:p.Arg1417Gln | |
| XM_011544854.1:c.4292G>A | XP_011543156.1:p.Arg1431Gln | |
| XM_011544855.1:c.4271G>A | XP_011543157.1:p.Arg1424Gln | |
| XM_011544856.1:c.4265G>A | XP_011543158.1:p.Arg1422Gln | |
| XM_011544857.1:c.4244G>A | XP_011543159.1:p.Arg1415Gln | |
| XM_011544858.1:c.4292G>A | XP_011543160.1:p.Arg1431Gln | |
| XM_011544859.1:c.3155G>A | XP_011543161.1:p.Arg1052Gln | |
| XM_005277932.3:c.3143G>A | XP_005277989.1:p.Arg1048Gln | |
| XM_017017387.1:c.4280G>A | XP_016872876.1:p.Arg1427Gln | |
| XM_017017388.1:c.4280G>A | XP_016872877.1:p.Arg1427Gln | |
| XM_017017389.1:c.4253G>A | XP_016872878.1:p.Arg1418Gln | |
| XM_017017390.1:c.2570G>A | XP_016872879.1:p.Arg857Gln | |
| NM_133266.5:c.2516G>A | NP_573573.2:p.Arg839Gln | |
| NR_110766.2:n.834+4290G>A | ||
| NM_001379226.1:c.3143G>A | NP_001366155.1:p.Arg1048Gln | |
| NM_012309.5:c.4280G>A MANE Select | NP_036441.2:p.Arg1427Gln |