Linked Data
ClinVar Variation Id:
2238487
ClinVar RCV Id:
RCV002729256
dbSNP Id:
rs1048493847
gnomAD v4:
2-215375692-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215375692T>A , CM000664.2:g.215375692T>A | GRCh38 |
| NC_000002.11:g.216240415T>A , CM000664.1:g.216240415T>A | GRCh37 |
| NC_000002.10:g.215948660T>A | NCBI36 |
| NG_012196.1:g.65377A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354785.11:c.5914A>T MANE Select | ENSP00000346839.4:p.Ile1972Phe | |
| ENST00000323926.10:c.5914A>T | ENSP00000323534.6:p.Ile1972Phe | |
| ENST00000336916.8:c.5641A>T | ENSP00000338200.4:p.Ile1881Phe | |
| ENST00000354785.8:c.5914A>T | ENSP00000346839.4:p.Ile1972Phe | |
| ENST00000356005.8:c.5371A>T | ENSP00000348285.4:p.Ile1791Phe | |
| ENST00000357867.8:c.5371A>T | ENSP00000350534.4:p.Ile1791Phe | |
| ENST00000359671.5:c.5641A>T | ENSP00000352696.1:p.Ile1881Phe | |
| ENST00000421182.5:c.5371A>T | ENSP00000394423.1:p.Ile1791Phe | |
| ENST00000432072.6:c.5644A>T | ENSP00000399538.2:p.Ile1882Phe | |
| ENST00000443816.5:c.5371A>T | ENSP00000415018.1:p.Ile1791Phe | |
| ENST00000446046.5:c.5641A>T | ENSP00000410422.1:p.Ile1881Phe | |
| ENST00000456923.5:c.1792A>T | ENSP00000416139.1:p.Ile598Phe | |
| ENST00000460217.1:n.34A>T | ||
| ENST00000474036.1:n.999A>T | ||
| ENST00000492816.6:n.7051A>T | ||
| NM_001306129.1:c.5914A>T | NP_001293058.1:p.Ile1972Phe | |
| NM_001306130.1:c.5644A>T | NP_001293059.1:p.Ile1882Phe | |
| NM_001306131.1:c.5371A>T | NP_001293060.1:p.Ile1791Phe | |
| NM_001306132.1:c.5371A>T | NP_001293061.1:p.Ile1791Phe | |
| NM_002026.2:c.5641A>T | NP_002017.1:p.Ile1881Phe | |
| NM_212474.1:c.5371A>T | NP_997639.1:p.Ile1791Phe | |
| NM_212476.1:c.5371A>T | NP_997641.1:p.Ile1791Phe | |
| NM_212478.1:c.5641A>T | NP_997643.1:p.Ile1881Phe | |
| NM_212482.1:c.5914A>T | NP_997647.1:p.Ile1972Phe | |
| XM_005246397.1:c.5914A>T | XP_005246454.1:p.Ile1972Phe | |
| XM_005246398.1:c.5914A>T | XP_005246455.1:p.Ile1972Phe | |
| XM_005246399.1:c.5914A>T | XP_005246456.1:p.Ile1972Phe | |
| XM_005246401.1:c.5914A>T | XP_005246458.1:p.Ile1972Phe | |
| XM_005246402.1:c.5914A>T | XP_005246459.1:p.Ile1972Phe | |
| XM_005246403.1:c.5644A>T | XP_005246460.1:p.Ile1882Phe | |
| XM_005246404.1:c.5641A>T | XP_005246461.1:p.Ile1881Phe | |
| XM_005246405.1:c.5644A>T | XP_005246462.1:p.Ile1882Phe | |
| XM_005246406.1:c.5641A>T | XP_005246463.1:p.Ile1881Phe | |
| XM_005246407.1:c.5914A>T | XP_005246464.1:p.Ile1972Phe | |
| XM_005246408.1:c.5644A>T | XP_005246465.1:p.Ile1882Phe | |
| XM_005246409.1:c.5641A>T | XP_005246466.1:p.Ile1881Phe | |
| XM_005246410.1:c.5644A>T | XP_005246467.1:p.Ile1882Phe | |
| XM_005246411.1:c.5644A>T | XP_005246468.1:p.Ile1882Phe | |
| XM_005246412.1:c.5371A>T | XP_005246469.1:p.Ile1791Phe | |
| XM_005246414.1:c.5641A>T | XP_005246471.1:p.Ile1881Phe | |
| XM_005246416.1:c.5371A>T | XP_005246473.1:p.Ile1791Phe | |
| NM_001365517.1:c.5644A>T | NP_001352446.1:p.Ile1882Phe | |
| NM_001365518.1:c.5641A>T | NP_001352447.1:p.Ile1881Phe | |
| NM_001365519.1:c.5644A>T | NP_001352448.1:p.Ile1882Phe | |
| NM_001365520.1:c.5641A>T | NP_001352449.1:p.Ile1881Phe | |
| NM_001365521.1:c.5644A>T | NP_001352450.1:p.Ile1882Phe | |
| NM_001365522.1:c.5644A>T | NP_001352451.1:p.Ile1882Phe | |
| NM_001365523.1:c.5371A>T | NP_001352452.1:p.Ile1791Phe | |
| NM_001365524.1:c.5641A>T | NP_001352453.1:p.Ile1881Phe | |
| NM_002026.3:c.5641A>T | NP_002017.1:p.Ile1881Phe | |
| NM_212474.2:c.5371A>T | NP_997639.1:p.Ile1791Phe | |
| NM_212476.2:c.5371A>T | NP_997641.1:p.Ile1791Phe | |
| NM_212478.2:c.5641A>T | NP_997643.1:p.Ile1881Phe | |
| NM_212482.2:c.5914A>T | NP_997647.1:p.Ile1972Phe | |
| XM_017003692.1:c.5914A>T | XP_016859181.1:p.Ile1972Phe | |
| XM_017003695.1:c.5371A>T | XP_016859184.1:p.Ile1791Phe | |
| XM_024452769.1:c.5914A>T | XP_024308537.1:p.Ile1972Phe | |
| XM_024452770.1:c.5644A>T | XP_024308538.1:p.Ile1882Phe | |
| XR_002959450.1:n.132+2155T>A | ||
| NM_212482.3:c.5914A>T | NP_997647.1:p.Ile1972Phe | |
| NM_001306129.2:c.5914A>T | NP_001293058.2:p.Ile1972Phe | |
| NM_001306130.2:c.5644A>T | NP_001293059.2:p.Ile1882Phe | |
| NM_001306131.2:c.5371A>T | NP_001293060.2:p.Ile1791Phe | |
| NM_001306132.2:c.5371A>T | NP_001293061.2:p.Ile1791Phe | |
| NM_001365517.2:c.5644A>T | NP_001352446.1:p.Ile1882Phe | |
| NM_001365518.2:c.5641A>T | NP_001352447.1:p.Ile1881Phe | |
| NM_001365519.2:c.5644A>T | NP_001352448.1:p.Ile1882Phe | |
| NM_001365520.2:c.5641A>T | NP_001352449.1:p.Ile1881Phe | |
| NM_001365521.2:c.5644A>T | NP_001352450.1:p.Ile1882Phe | |
| NM_001365522.2:c.5644A>T | NP_001352451.1:p.Ile1882Phe | |
| NM_001365523.2:c.5371A>T | NP_001352452.1:p.Ile1791Phe | |
| NM_001365524.2:c.5641A>T | NP_001352453.1:p.Ile1881Phe | |
| NM_002026.4:c.5641A>T | NP_002017.2:p.Ile1881Phe | |
| NM_212474.3:c.5371A>T | NP_997639.2:p.Ile1791Phe | |
| NM_212476.3:c.5371A>T | NP_997641.2:p.Ile1791Phe | |
| NM_212478.3:c.5641A>T | NP_997643.2:p.Ile1881Phe | |
| NM_212482.4:c.5914A>T MANE Select | NP_997647.2:p.Ile1972Phe |