Linked Data
ClinVar Variation Id:
1250663
dbSNP Id:
rs1250204
ExAC:
2:216243832 T / C
gnomAD v2:
2-216243832-T-C
gnomAD v3:
2-215379109-T-C
gnomAD v4:
2-215379109-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215379109T>C , CM000664.2:g.215379109T>C | GRCh38 |
| NC_000002.11:g.216243832T>C , CM000664.1:g.216243832T>C | GRCh37 |
| NC_000002.10:g.215952077T>C | NCBI36 |
| NG_012196.1:g.61960A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354785.11:c.5622+21A>G MANE Select | ENSP00000346839.4:n.5622+21A>G | |
| ENST00000323926.10:c.5622+21A>G | ENSP00000323534.6:n.5622+21A>G | |
| ENST00000336916.8:c.5349+21A>G | ENSP00000338200.4:n.5349+21A>G | |
| ENST00000354785.8:c.5622+21A>G | ENSP00000346839.4:n.5622+21A>G | |
| ENST00000356005.8:c.5079+21A>G | ENSP00000348285.4:n.5079+21A>G | |
| ENST00000357867.8:c.5079+21A>G | ENSP00000350534.4:n.5079+21A>G | |
| ENST00000359671.5:c.5349+21A>G | ENSP00000352696.1:n.5349+21A>G | |
| ENST00000421182.5:c.5079+21A>G | ENSP00000394423.1:n.5079+21A>G | |
| ENST00000432072.6:c.5352+21A>G | ENSP00000399538.2:n.5352+21A>G | |
| ENST00000443816.5:c.5079+21A>G | ENSP00000415018.1:n.5079+21A>G | |
| ENST00000446046.5:c.5349+21A>G | ENSP00000410422.1:n.5349+21A>G | |
| ENST00000456923.5:c.1500+21A>G | ENSP00000416139.1:n.1500+21A>G | |
| ENST00000474036.1:n.707+21A>G | ||
| ENST00000492816.6:n.6759+21A>G | ||
| NM_001306129.1:c.5622+21A>G | NP_001293058.1:n.5622+21A>G | |
| NM_001306130.1:c.5352+21A>G | NP_001293059.1:n.5352+21A>G | |
| NM_001306131.1:c.5079+21A>G | NP_001293060.1:n.5079+21A>G | |
| NM_001306132.1:c.5079+21A>G | NP_001293061.1:n.5079+21A>G | |
| NM_002026.2:c.5349+21A>G | NP_002017.1:n.5349+21A>G | |
| NM_212474.1:c.5079+21A>G | NP_997639.1:n.5079+21A>G | |
| NM_212476.1:c.5079+21A>G | NP_997641.1:n.5079+21A>G | |
| NM_212478.1:c.5349+21A>G | NP_997643.1:n.5349+21A>G | |
| NM_212482.1:c.5622+21A>G | NP_997647.1:n.5622+21A>G | |
| XM_005246397.1:c.5622+21A>G | XP_005246454.1:n.5622+21A>G | |
| XM_005246398.1:c.5622+21A>G | XP_005246455.1:n.5622+21A>G | |
| XM_005246399.1:c.5622+21A>G | XP_005246456.1:n.5622+21A>G | |
| XM_005246401.1:c.5622+21A>G | XP_005246458.1:n.5622+21A>G | |
| XM_005246402.1:c.5622+21A>G | XP_005246459.1:n.5622+21A>G | |
| XM_005246403.1:c.5352+21A>G | XP_005246460.1:n.5352+21A>G | |
| XM_005246404.1:c.5349+21A>G | XP_005246461.1:n.5349+21A>G | |
| XM_005246405.1:c.5352+21A>G | XP_005246462.1:n.5352+21A>G | |
| XM_005246406.1:c.5349+21A>G | XP_005246463.1:n.5349+21A>G | |
| XM_005246407.1:c.5622+21A>G | XP_005246464.1:n.5622+21A>G | |
| XM_005246408.1:c.5352+21A>G | XP_005246465.1:n.5352+21A>G | |
| XM_005246409.1:c.5349+21A>G | XP_005246466.1:n.5349+21A>G | |
| XM_005246410.1:c.5352+21A>G | XP_005246467.1:n.5352+21A>G | |
| XM_005246411.1:c.5352+21A>G | XP_005246468.1:n.5352+21A>G | |
| XM_005246412.1:c.5079+21A>G | XP_005246469.1:n.5079+21A>G | |
| XM_005246414.1:c.5349+21A>G | XP_005246471.1:n.5349+21A>G | |
| XM_005246416.1:c.5079+21A>G | XP_005246473.1:n.5079+21A>G | |
| NM_001365517.1:c.5352+21A>G | NP_001352446.1:n.5352+21A>G | |
| NM_001365518.1:c.5349+21A>G | NP_001352447.1:n.5349+21A>G | |
| NM_001365519.1:c.5352+21A>G | NP_001352448.1:n.5352+21A>G | |
| NM_001365520.1:c.5349+21A>G | NP_001352449.1:n.5349+21A>G | |
| NM_001365521.1:c.5352+21A>G | NP_001352450.1:n.5352+21A>G | |
| NM_001365522.1:c.5352+21A>G | NP_001352451.1:n.5352+21A>G | |
| NM_001365523.1:c.5079+21A>G | NP_001352452.1:n.5079+21A>G | |
| NM_001365524.1:c.5349+21A>G | NP_001352453.1:n.5349+21A>G | |
| NM_002026.3:c.5349+21A>G | NP_002017.1:n.5349+21A>G | |
| NM_212474.2:c.5079+21A>G | NP_997639.1:n.5079+21A>G | |
| NM_212476.2:c.5079+21A>G | NP_997641.1:n.5079+21A>G | |
| NM_212478.2:c.5349+21A>G | NP_997643.1:n.5349+21A>G | |
| NM_212482.2:c.5622+21A>G | NP_997647.1:n.5622+21A>G | |
| XM_017003692.1:c.5622+21A>G | XP_016859181.1:n.5622+21A>G | |
| XM_017003695.1:c.5079+21A>G | XP_016859184.1:n.5079+21A>G | |
| XM_024452769.1:c.5622+21A>G | XP_024308537.1:n.5622+21A>G | |
| XM_024452770.1:c.5352+21A>G | XP_024308538.1:n.5352+21A>G | |
| XR_002959450.1:n.133-772T>C | ||
| NM_212482.3:c.5622+21A>G | NP_997647.1:n.5622+21A>G | |
| NM_001306129.2:c.5622+21A>G | NP_001293058.2:n.5622+21A>G | |
| NM_001306130.2:c.5352+21A>G | NP_001293059.2:n.5352+21A>G | |
| NM_001306131.2:c.5079+21A>G | NP_001293060.2:n.5079+21A>G | |
| NM_001306132.2:c.5079+21A>G | NP_001293061.2:n.5079+21A>G | |
| NM_001365517.2:c.5352+21A>G | NP_001352446.1:n.5352+21A>G | |
| NM_001365518.2:c.5349+21A>G | NP_001352447.1:n.5349+21A>G | |
| NM_001365519.2:c.5352+21A>G | NP_001352448.1:n.5352+21A>G | |
| NM_001365520.2:c.5349+21A>G | NP_001352449.1:n.5349+21A>G | |
| NM_001365521.2:c.5352+21A>G | NP_001352450.1:n.5352+21A>G | |
| NM_001365522.2:c.5352+21A>G | NP_001352451.1:n.5352+21A>G | |
| NM_001365523.2:c.5079+21A>G | NP_001352452.1:n.5079+21A>G | |
| NM_001365524.2:c.5349+21A>G | NP_001352453.1:n.5349+21A>G | |
| NM_002026.4:c.5349+21A>G | NP_002017.2:n.5349+21A>G | |
| NM_212474.3:c.5079+21A>G | NP_997639.2:n.5079+21A>G | |
| NM_212476.3:c.5079+21A>G | NP_997641.2:n.5079+21A>G | |
| NM_212478.3:c.5349+21A>G | NP_997643.2:n.5349+21A>G | |
| NM_212482.4:c.5622+21A>G MANE Select | NP_997647.2:n.5622+21A>G |