Linked Data
ClinVar Variation Id:
202560
ClinVar RCV Id:
RCV000313900
RCV000329199
RCV000368569
RCV000474657
RCV000273981
RCV000365255
RCV000733449
RCV004539718
RCV003387790
dbSNP Id:
rs200831060
ExAC:
2:179560685 C / G
gnomAD v2:
2-179560685-C-G
gnomAD v3:
2-178695958-C-G
gnomAD v4:
2-178695958-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178695958C>G , CM000664.2:g.178695958C>G | GRCh38 |
| NC_000002.11:g.179560685C>G , CM000664.1:g.179560685C>G | GRCh37 |
| NC_000002.10:g.179268930C>G | NCBI36 |
| NG_011618.3:g.139845G>C , LRG_391:g.139845G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.27382G>C | ENSP00000343764.6:p.Glu9128Gln | |
| ENST00000342175.11:c.13858+42124G>C | ENSP00000340554.6:n.13858+42124G>C | |
| ENST00000359218.10:c.13657+42124G>C | ENSP00000352154.5:n.13657+42124G>C | |
| ENST00000342175.10:c.13858+42124G>C | ENSP00000340554.6:n.13858+42124G>C | |
| ENST00000342992.10:c.27382G>C | ENSP00000343764.6:p.Glu9128Gln | |
| ENST00000359218.9:c.13657+42124G>C | ENSP00000352154.5:n.13657+42124G>C | |
| ENST00000414766.5:c.748G>C | ENSP00000401501.1:p.Glu250Gln | |
| ENST00000460472.6:c.13282+42124G>C | ENSP00000434586.1:n.13282+42124G>C | |
| ENST00000589042.5:c.31114G>C MANE Select | ENSP00000467141.1:p.Glu10372Gln | |
| ENST00000591111.5:c.30163G>C | ENSP00000465570.1:p.Glu10055Gln | |
| ENST00000615779.4:c.30163G>C | ENSP00000483597.1:p.Glu10055Gln | |
| NM_001256850.1:c.30163G>C | NP_001243779.1:p.Glu10055Gln | |
| NM_001267550.2:c.31114G>C MANE Select | NP_001254479.2:p.Glu10372Gln | |
| NM_003319.4:c.13282+42124G>C | NP_003310.4:n.13282+42124G>C | |
| NM_133378.4:c.27382G>C | NP_596869.4:p.Glu9128Gln | |
| NM_133432.3:c.13657+42124G>C | NP_597676.3:n.13657+42124G>C | |
| NM_133437.4:c.13858+42124G>C | NP_597681.4:n.13858+42124G>C | |
| XM_011511729.1:c.30211G>C | XP_011510031.1:p.Glu10071Gln | |
| XM_011511730.1:c.13468+42124G>C | XP_011510032.1:n.13468+42124G>C | |
| XM_011511731.1:c.13327+42124G>C | XP_011510033.1:n.13327+42124G>C | |
| XM_017004819.1:c.30166G>C | XP_016860308.1:p.Glu10056Gln | |
| XM_017004820.1:c.27385G>C | XP_016860309.1:p.Glu9129Gln | |
| XM_017004821.1:c.27382G>C | XP_016860310.1:p.Glu9128Gln | |
| XM_017004822.1:c.30166G>C | XP_016860311.1:p.Glu10056Gln | |
| XM_017004823.1:c.13423+42124G>C | XP_016860312.1:n.13423+42124G>C | |
| XM_024453094.1:c.30166G>C | XP_024308862.1:p.Glu10056Gln | |
| XM_024453095.1:c.30166G>C | XP_024308863.1:p.Glu10056Gln | |
| XM_024453096.1:c.30166G>C | XP_024308864.1:p.Glu10056Gln | |
| XM_024453097.1:c.30166G>C | XP_024308865.1:p.Glu10056Gln | |
| XM_024453098.1:c.30166G>C | XP_024308866.1:p.Glu10056Gln | |
| XM_024453099.1:c.13423+42124G>C | XP_024308867.1:n.13423+42124G>C |