Linked Data
ClinVar Variation Id:
46486
dbSNP Id:
rs397517461
ExAC:
10:55582703 T / G
gnomAD v2:
10-55582703-T-G
gnomAD v3:
10-53822943-T-G
gnomAD v4:
10-53822943-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822943T>G , CM000672.2:g.53822943T>G | GRCh38 |
| NC_000010.10:g.55582703T>G , CM000672.1:g.55582703T>G | GRCh37 |
| NC_000010.9:g.55252709T>G | NCBI36 |
| NG_009191.2:g.983349A>C | |
| NG_009191.3:g.1811240A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2193A>C | ENSP00000482794.1:n.4409+2193A>C | |
| ENST00000320301.11:c.4783A>C MANE Plus Clinical | ENSP00000322604.6:p.Ile1595Leu | |
| ENST00000395445.6:c.4388+4450A>C | ENSP00000378832.2:n.4388+4450A>C | |
| ENST00000613657.5:c.4409+2193A>C | ENSP00000482794.1:n.4409+2193A>C | |
| ENST00000642496.1:c.3227-2713A>C | ||
| ENST00000644397.2:c.4368-2713A>C MANE Select | ENSP00000495195.1:n.4368-2713A>C | |
| ENST00000320301.10:c.4783A>C | ENSP00000322604.6:p.Ile1595Leu | |
| ENST00000361849.7:c.4789A>C | ENSP00000354950.3:p.Ile1597Leu | |
| ENST00000373956.7:c.*2738A>C | ENSP00000363067.4:n.*2738A>C | |
| ENST00000373957.7:c.4804A>C | ENSP00000363068.4:p.Ile1602Leu | |
| ENST00000373965.6:c.4373+2193A>C | ENSP00000363076.3:n.4373+2193A>C | |
| ENST00000395430.5:c.4774A>C | ENSP00000378818.1:p.Ile1592Leu | |
| ENST00000395432.6:c.4663A>C | ENSP00000378820.2:p.Ile1555Leu | |
| ENST00000395433.5:c.4714A>C | ENSP00000378821.1:p.Ile1572Leu | |
| ENST00000395438.5:c.4371+4449A>C | ENSP00000378826.2:n.4371+4449A>C | |
| ENST00000395440.5:c.1306-13397A>C | ENSP00000378827.1:n.1306-13397A>C | |
| ENST00000395442.5:c.1099-13397A>C | ENSP00000378829.1:n.1099-13397A>C | |
| ENST00000395445.5:c.4388+4450A>C | ENSP00000378832.2:n.4388+4450A>C | |
| ENST00000395446.5:c.2092-13397A>C | ENSP00000378833.1:n.2092-13397A>C | |
| ENST00000409834.5:c.3206+2193A>C | ENSP00000386693.1:n.3206+2193A>C | |
| ENST00000414367.5:c.*447+4450A>C | ENSP00000412531.1:n.*447+4450A>C | |
| ENST00000414778.5:c.4370+4450A>C | ENSP00000410304.2:n.4370+4450A>C | |
| ENST00000437009.5:c.4576A>C | ENSP00000412628.2:p.Ile1526Leu | |
| ENST00000448885.5:c.*2744A>C | ENSP00000412320.1:n.*2744A>C | |
| ENST00000463095.2:n.1802A>C | ||
| ENST00000495484.5:c.462-4930A>C | ENSP00000480780.1:n.462-4930A>C | |
| ENST00000612394.4:c.4406+4450A>C | ENSP00000482921.1:n.4406+4450A>C | |
| ENST00000613657.4:c.4409+2193A>C | ENSP00000482794.1:n.4409+2193A>C | |
| ENST00000614895.4:c.4385+4450A>C | ENSP00000478512.1:n.4385+4450A>C | |
| ENST00000616114.4:c.4367+4450A>C | ENSP00000483745.1:n.4367+4450A>C | |
| ENST00000617051.4:c.4810A>C | ENSP00000484703.1:p.Ile1604Leu | |
| ENST00000617271.4:c.4373+2193A>C | ENSP00000478076.1:n.4373+2193A>C | |
| ENST00000618301.4:c.593+4450A>C | ENSP00000482780.1:n.593+4450A>C | |
| ENST00000621708.4:c.4388+2193A>C | ENSP00000484454.1:n.4388+2193A>C | |
| ENST00000622048.4:c.4582A>C | ENSP00000482329.1:p.Ile1528Leu | |
| NM_001142763.1:c.4804A>C | NP_001136235.1:p.Ile1602Leu | |
| NM_001142764.1:c.4789A>C | NP_001136236.1:p.Ile1597Leu | |
| NM_001142765.1:c.4576A>C | NP_001136237.1:p.Ile1526Leu | |
| NM_001142766.1:c.4774A>C | NP_001136238.1:p.Ile1592Leu | |
| NM_001142767.1:c.4663A>C | NP_001136239.1:p.Ile1555Leu | |
| NM_001142768.1:c.4723A>C | NP_001136240.1:p.Ile1575Leu | |
| NM_001142769.1:c.4409+2193A>C | NP_001136241.1:n.4409+2193A>C | |
| NM_001142770.1:c.4373+2193A>C | NP_001136242.1:n.4373+2193A>C | |
| NM_001142771.1:c.4388+2193A>C | NP_001136243.1:n.4388+2193A>C | |
| NM_001142772.1:c.4373+2193A>C | NP_001136244.1:n.4373+2193A>C | |
| NM_001142773.1:c.4714A>C | NP_001136245.1:p.Ile1572Leu | |
| NM_033056.3:c.4783A>C | NP_149045.3:p.Ile1595Leu | |
| NM_001142769.2:c.4409+2193A>C | NP_001136241.1:n.4409+2193A>C | |
| NM_001142770.2:c.4373+2193A>C | NP_001136242.1:n.4373+2193A>C | |
| NM_001354404.1:c.4717A>C | NP_001341333.1:p.Ile1573Leu | |
| NM_001354411.1:c.4388+4450A>C | NP_001341340.1:n.4388+4450A>C | |
| NM_001354420.1:c.4367+4450A>C | NP_001341349.1:n.4367+4450A>C | |
| NM_001354429.1:c.4367+4450A>C | NP_001341358.1:n.4367+4450A>C | |
| XM_017016573.2:c.4388+2193A>C | XP_016872062.1:n.4388+2193A>C | |
| XR_001747192.2:n.5796A>C | ||
| XR_001747193.2:n.5787A>C | ||
| NM_001142763.2:c.4804A>C | NP_001136235.1:p.Ile1602Leu | |
| NM_001142764.2:c.4789A>C | NP_001136236.1:p.Ile1597Leu | |
| NM_001142765.2:c.4576A>C | NP_001136237.1:p.Ile1526Leu | |
| NM_001142766.2:c.4774A>C | NP_001136238.1:p.Ile1592Leu | |
| NM_001142768.2:c.4723A>C | NP_001136240.1:p.Ile1575Leu | |
| NM_001142769.3:c.4409+2193A>C | NP_001136241.1:n.4409+2193A>C | |
| NM_001142770.3:c.4373+2193A>C | NP_001136242.1:n.4373+2193A>C | |
| NM_001142771.2:c.4388+2193A>C | NP_001136243.1:n.4388+2193A>C | |
| NM_001142772.2:c.4373+2193A>C | NP_001136244.1:n.4373+2193A>C | |
| NM_001142773.2:c.4714A>C | NP_001136245.1:p.Ile1572Leu | |
| NM_001354411.2:c.4388+4450A>C | NP_001341340.1:n.4388+4450A>C | |
| NM_001354420.2:c.4367+4450A>C | NP_001341349.1:n.4367+4450A>C | |
| NM_001354429.2:c.4367+4450A>C | NP_001341358.1:n.4367+4450A>C | |
| NM_033056.4:c.4783A>C MANE Plus Clinical | NP_149045.3:p.Ile1595Leu | |
| NM_001142767.2:c.4663A>C | NP_001136239.1:p.Ile1555Leu | |
| NM_001354404.2:c.4717A>C | NP_001341333.1:p.Ile1573Leu | |
| NM_001384140.1:c.4368-2713A>C MANE Select | NP_001371069.1:n.4368-2713A>C |