Linked Data
dbSNP Id:
rs1211081953
gnomAD v2:
9-117797517-A-G
gnomAD v3:
9-115035238-A-G
gnomAD v4:
9-115035238-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115035238A>G , CM000671.2:g.115035238A>G | GRCh38 |
| NC_000009.11:g.117797517A>G , CM000671.1:g.117797517A>G | GRCh37 |
| NC_000009.10:g.116837338A>G | NCBI36 |
| NG_029637.1:g.88020T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537320.6:c.3842T>C | ENSP00000443478.1:p.Leu1281Pro | |
| ENST00000542877.6:c.4664T>C | ENSP00000442242.1:p.Leu1555Pro | |
| ENST00000705190.1:c.2696T>C | ENSP00000516083.1:p.Leu899Pro | |
| ENST00000705191.1:c.1352T>C | ENSP00000516084.1:p.Leu451Pro | |
| ENST00000705192.1:c.4711T>C | ||
| ENST00000350763.9:c.5753T>C MANE Select | ENSP00000265131.4:p.Leu1918Pro | |
| ENST00000341037.8:c.5207T>C | ENSP00000339553.4:p.Leu1736Pro | |
| ENST00000350763.8:c.5753T>C | ENSP00000265131.4:p.Leu1918Pro | |
| ENST00000423613.6:c.4934T>C | ENSP00000411406.2:p.Leu1645Pro | |
| ENST00000460345.1:n.335T>C | ||
| ENST00000535648.5:c.4664T>C | ENSP00000438152.2:p.Leu1555Pro | |
| ENST00000537320.5:c.3842T>C | ENSP00000443478.1:p.Leu1281Pro | |
| ENST00000542877.5:c.4664T>C | ENSP00000442242.1:p.Leu1555Pro | |
| ENST00000544972.1:c.1440T>C | ||
| NM_002160.3:c.5753T>C | NP_002151.2:p.Leu1918Pro | |
| XM_005251972.2:c.5480T>C | XP_005252029.1:p.Leu1827Pro | |
| XM_005251973.2:c.4661T>C | XP_005252030.1:p.Leu1554Pro | |
| XM_005251974.2:c.4115T>C | XP_005252031.1:p.Leu1372Pro | |
| XM_005251975.2:c.3842T>C | XP_005252032.1:p.Leu1281Pro | |
| XM_006717096.2:c.6029T>C | XP_006717159.1:p.Leu2010Pro | |
| XM_006717097.2:c.5480T>C | XP_006717160.1:p.Leu1827Pro | |
| XM_006717098.2:c.5207T>C | XP_006717161.1:p.Leu1736Pro | |
| XM_006717100.2:c.4934T>C | XP_006717163.1:p.Leu1645Pro | |
| XM_006717101.2:c.4115T>C | XP_006717164.1:p.Leu1372Pro | |
| XM_011518622.1:c.5756T>C | XP_011516924.1:p.Leu1919Pro | |
| XM_011518623.1:c.5756T>C | XP_011516925.1:p.Leu1919Pro | |
| XM_011518624.1:c.5210T>C | XP_011516926.1:p.Leu1737Pro | |
| XM_011518625.1:c.5207T>C | XP_011516927.1:p.Leu1736Pro | |
| XM_011518626.1:c.4937T>C | XP_011516928.1:p.Leu1646Pro | |
| XM_011518627.1:c.4664T>C | XP_011516929.1:p.Leu1555Pro | |
| XM_011518628.1:c.4388T>C | XP_011516930.1:p.Leu1463Pro | |
| XM_011518629.1:c.4388T>C | XP_011516931.1:p.Leu1463Pro | |
| XM_005251972.4:c.5480T>C | XP_005252029.1:p.Leu1827Pro | |
| XM_005251973.4:c.4661T>C | XP_005252030.1:p.Leu1554Pro | |
| XM_005251974.4:c.4115T>C | XP_005252031.1:p.Leu1372Pro | |
| XM_005251975.4:c.3842T>C | XP_005252032.1:p.Leu1281Pro | |
| XM_006717096.4:c.6029T>C | XP_006717159.1:p.Leu2010Pro | |
| XM_006717097.4:c.5480T>C | XP_006717160.1:p.Leu1827Pro | |
| XM_006717098.4:c.5207T>C | XP_006717161.1:p.Leu1736Pro | |
| XM_006717101.4:c.4115T>C | XP_006717164.1:p.Leu1372Pro | |
| XM_011518625.3:c.5207T>C | XP_011516927.1:p.Leu1736Pro | |
| XM_011518626.3:c.4937T>C | XP_011516928.1:p.Leu1646Pro | |
| XM_011518628.3:c.4388T>C | XP_011516930.1:p.Leu1463Pro | |
| XM_011518629.3:c.4388T>C | XP_011516931.1:p.Leu1463Pro | |
| XM_017014678.2:c.6302T>C | XP_016870167.1:p.Leu2101Pro | |
| XM_017014679.2:c.6029T>C | XP_016870168.1:p.Leu2010Pro | |
| XM_017014680.2:c.6026T>C | XP_016870169.1:p.Leu2009Pro | |
| XM_017014681.2:c.5210T>C | XP_016870170.1:p.Leu1737Pro | |
| XM_024447530.1:c.6302T>C | XP_024303298.1:p.Leu2101Pro | |
| NM_002160.4:c.5753T>C MANE Select | NP_002151.2:p.Leu1918Pro |