Linked Data
ClinVar Variation Id:
56187
ClinVar RCV Id:
RCV000049598
dbSNP Id:
rs386833639
ExAC:
1:40557807 T / G
gnomAD v2:
1-40557807-T-G
gnomAD v3:
1-40092135-T-G
gnomAD v4:
1-40092135-T-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092135T>G , CM000663.2:g.40092135T>G | GRCh38 |
| NC_000001.10:g.40557807T>G , CM000663.1:g.40557807T>G | GRCh37 |
| NC_000001.9:g.40330394T>G | NCBI36 |
| NG_009192.1:g.10336A>C , LRG_690:g.10336A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*108A>C | ENSP00000361865.5:n.*108A>C | |
| ENST00000433473.8:c.269A>C | ENSP00000394863.4:p.Gln90Pro | |
| ENST00000439754.6:c.272A>C | ENSP00000403207.2:p.Gln91Pro | |
| ENST00000449045.7:c.125-2623A>C | ENSP00000392293.2:n.125-2623A>C | |
| ENST00000526547.2:c.552A>C | ||
| ENST00000527311.7:c.234+263A>C | ENSP00000436695.3:n.234+263A>C | |
| ENST00000530704.6:c.272A>C | ENSP00000431655.1:p.Gln91Pro | |
| ENST00000641083.1:c.250A>C | ||
| ENST00000641236.1:n.509A>C | ||
| ENST00000641319.1:c.272A>C | ENSP00000493128.1:p.Gln91Pro | |
| ENST00000641471.1:c.359A>C | ENSP00000493146.1:p.Gln120Pro | |
| ENST00000641548.1:c.*124A>C | ENSP00000492984.1:n.*124A>C | |
| ENST00000641691.1:c.*124A>C | ENSP00000492910.1:n.*124A>C | |
| ENST00000641924.1:c.124+4980A>C | ENSP00000493063.1:n.124+4980A>C | |
| ENST00000642050.2:c.272A>C MANE Select | ENSP00000493153.1:p.Gln91Pro | |
| ENST00000372779.8:c.359A>C | ENSP00000361865.4:p.Gln120Pro | |
| ENST00000433473.7:c.272A>C | ENSP00000394863.3:p.Gln91Pro | |
| ENST00000449045.6:c.125-2623A>C | ENSP00000392293.2:n.125-2623A>C | |
| ENST00000526547.1:c.122A>C | ENSP00000436481.1:p.Gln41Pro | |
| ENST00000527311.6:c.125-78A>C | ENSP00000436695.2:n.125-78A>C | |
| ENST00000529905.5:c.272A>C | ENSP00000432053.1:p.Gln91Pro | |
| ENST00000530704.5:c.272A>C | ENSP00000431655.1:p.Gln91Pro | |
| NM_000310.3:c.272A>C , LRG_690t1:c.272A>C | NP_000301.1:p.Gln91Pro | |
| NM_001142604.1:c.125-2623A>C | NP_001136076.1:n.125-2623A>C | |
| XM_005271008.1:c.272A>C | XP_005271065.1:p.Gln91Pro | |
| NM_001363695.1:c.272A>C | NP_001350624.1:p.Gln91Pro | |
| NM_000310.4:c.272A>C MANE Select | NP_000301.1:p.Gln91Pro | |
| NM_001142604.2:c.125-2623A>C | NP_001136076.1:n.125-2623A>C | |
| NM_001363695.2:c.272A>C | NP_001350624.1:p.Gln91Pro |