Linked Data
ClinVar Variation Id:
287025
dbSNP Id:
rs139365076
ExAC:
X:31515016 A / G
gnomAD v2:
X-31515016-A-G
gnomAD v3:
X-31496899-A-G
gnomAD v4:
X-31496899-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31496899A>G , CM000685.2:g.31496899A>G | GRCh38 |
| NC_000023.10:g.31515016A>G , CM000685.1:g.31515016A>G | GRCh37 |
| NC_000023.9:g.31424937A>G | NCBI36 |
| NG_012232.1:g.1847711T>C , LRG_199:g.1847711T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3282T>C | ENSP00000350765.3:p.Leu1094= | |
| ENST00000682238.1:c.1056T>C | ENSP00000508124.1:p.Leu352= | |
| ENST00000683450.1:n.1901T>C | ||
| ENST00000683957.1:n.1928T>C | ||
| ENST00000684130.1:c.1056T>C | ENSP00000508037.1:p.Leu352= | |
| ENST00000343523.7:c.291T>C | ENSP00000340057.4:p.Leu97= | |
| ENST00000357033.9:c.8436T>C MANE Select | ENSP00000354923.3:p.Leu2812= | |
| ENST00000619831.5:c.4404T>C | ENSP00000479270.2:p.Leu1468= | |
| ENST00000620040.5:c.1056T>C | ENSP00000478150.2:p.Leu352= | |
| ENST00000680961.1:c.1056T>C | ENSP00000506386.1:p.Leu352= | |
| ENST00000681646.1:n.2097T>C | ||
| ENST00000343523.6:c.249T>C | ENSP00000340057.3:p.Leu83= | |
| ENST00000357033.8:c.8436T>C | ENSP00000354923.3:p.Leu2812= | |
| ENST00000358062.6:c.1524T>C | ENSP00000350765.2:p.Leu508= | |
| ENST00000359836.5:c.1056T>C | ENSP00000352894.1:p.Leu352= | |
| ENST00000378677.6:c.8424T>C | ENSP00000367948.2:p.Leu2808= | |
| ENST00000378707.7:c.1056T>C | ENSP00000367979.3:p.Leu352= | |
| ENST00000445312.1:n.493T>C | ||
| ENST00000474231.5:c.1056T>C | ENSP00000417123.1:p.Leu352= | |
| ENST00000541735.5:c.1056T>C | ENSP00000444119.1:p.Leu352= | |
| ENST00000619831.4:c.8421T>C | ENSP00000479270.1:p.Leu2807= | |
| ENST00000620040.4:c.8433T>C | ENSP00000478150.1:p.Leu2811= | |
| NM_000109.3:c.8412T>C | NP_000100.2:p.Leu2804= | |
| NM_004006.2:c.8436T>C , LRG_199t1:c.8436T>C | NP_003997.1:p.Leu2812= | |
| NM_004009.3:c.8424T>C | NP_004000.1:p.Leu2808= | |
| NM_004010.3:c.8067T>C | NP_004001.1:p.Leu2689= | |
| NM_004011.3:c.4413T>C | NP_004002.2:p.Leu1471= | |
| NM_004012.3:c.4404T>C | NP_004003.1:p.Leu1468= | |
| NM_004013.2:c.1056T>C | NP_004004.1:p.Leu352= | |
| NM_004014.2:c.249T>C | NP_004005.1:p.Leu83= | |
| NM_004020.3:c.1056T>C | NP_004011.2:p.Leu352= | |
| NM_004021.2:c.1056T>C | NP_004012.1:p.Leu352= | |
| NM_004022.2:c.1056T>C | NP_004013.1:p.Leu352= | |
| NM_004023.2:c.1056T>C | NP_004014.1:p.Leu352= | |
| XM_006724468.2:c.8436T>C | XP_006724531.1:p.Leu2812= | |
| XM_006724469.2:c.8412T>C | XP_006724532.1:p.Leu2804= | |
| XM_006724470.2:c.8436T>C | XP_006724533.1:p.Leu2812= | |
| XM_006724471.2:c.8436T>C | XP_006724534.1:p.Leu2812= | |
| XM_006724472.2:c.8307T>C | XP_006724535.1:p.Leu2769= | |
| XM_006724473.2:c.8298T>C | XP_006724536.1:p.Leu2766= | |
| XM_006724474.2:c.8436T>C | XP_006724537.1:p.Leu2812= | |
| XM_006724475.2:c.8436T>C | XP_006724538.1:p.Leu2812= | |
| XM_011545467.1:c.8313T>C | XP_011543769.1:p.Leu2771= | |
| XM_011545468.1:c.8436T>C | XP_011543770.1:p.Leu2812= | |
| XM_006724469.3:c.8412T>C | XP_006724532.1:p.Leu2804= | |
| XM_006724470.3:c.8436T>C | XP_006724533.1:p.Leu2812= | |
| XM_006724474.3:c.8436T>C | XP_006724537.1:p.Leu2812= | |
| XM_011545468.2:c.8436T>C | XP_011543770.1:p.Leu2812= | |
| XM_017029328.1:c.8436T>C | XP_016884817.1:p.Leu2812= | |
| XM_017029331.1:c.2610T>C | XP_016884820.1:p.Leu870= | |
| NM_000109.4:c.8412T>C | NP_000100.3:p.Leu2804= | |
| NM_004006.3:c.8436T>C MANE Select | NP_003997.2:p.Leu2812= | |
| NM_004011.4:c.4413T>C | NP_004002.3:p.Leu1471= | |
| NM_004012.4:c.4404T>C | NP_004003.2:p.Leu1468= | |
| NM_004021.3:c.1056T>C | NP_004012.2:p.Leu352= | |
| NM_004023.3:c.1056T>C | NP_004014.2:p.Leu352= | |
| NM_004013.3:c.1056T>C | NP_004004.2:p.Leu352= | |
| NM_004014.3:c.249T>C | NP_004005.2:p.Leu83= | |
| NM_004020.4:c.1056T>C | NP_004011.3:p.Leu352= | |
| NM_004022.3:c.1056T>C | NP_004013.2:p.Leu352= |