Linked Data
ClinVar Variation Id:
217582
ClinVar RCV Id:
RCV000201737
dbSNP Id:
rs773362418
ExAC:
5:37206449 C / A
gnomAD v2:
5-37206449-C-A
gnomAD v3:
5-37206347-C-A
gnomAD v4:
5-37206347-C-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37206347C>A , CM000667.2:g.37206347C>A | GRCh38 |
| NC_000005.9:g.37206449C>A , CM000667.1:g.37206449C>A | GRCh37 |
| NC_000005.8:g.37242206C>A | NCBI36 |
| NG_032772.1:g.48082G>T | |
| NG_032772.2:g.48082G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425232.7:c.2654-893G>T | ||
| ENST00000651892.2:c.2999G>T MANE Select | ENSP00000498265.2:p.Trp1000Leu | |
| ENST00000675547.1:n.3069G>T | ||
| ENST00000676290.1:n.3074G>T | ||
| ENST00000425232.6:c.2999G>T | ENSP00000389014.2:p.Trp1000Leu | |
| ENST00000505431.1:n.36G>T | ||
| ENST00000508244.5:c.2999G>T | ENSP00000421690.1:p.Trp1000Leu | |
| ENST00000509849.5:c.65-51G>T | ENSP00000426337.1:n.65-51G>T | |
| ENST00000514429.5:c.143G>T | ENSP00000424223.1:p.Trp48Leu | |
| NM_023073.3:c.2999G>T | NP_075561.3:p.Trp1000Leu | |
| XM_005248345.2:c.2999G>T | XP_005248402.1:p.Trp1000Leu | |
| XM_005248346.2:c.2999G>T | XP_005248403.1:p.Trp1000Leu | |
| XM_005248347.2:c.2999G>T | XP_005248404.1:p.Trp1000Leu | |
| XM_005248349.2:c.2999G>T | XP_005248406.1:p.Trp1000Leu | |
| XM_005248350.2:c.2921-51G>T | XP_005248407.1:n.2921-51G>T | |
| XM_006714489.2:c.2999G>T | XP_006714552.1:p.Trp1000Leu | |
| XM_011514085.1:c.2999G>T | XP_011512387.1:p.Trp1000Leu | |
| XM_011514086.1:c.2999G>T | XP_011512388.1:p.Trp1000Leu | |
| XM_011514087.1:c.2999G>T | XP_011512389.1:p.Trp1000Leu | |
| XM_011514088.1:c.2999G>T | XP_011512390.1:p.Trp1000Leu | |
| XM_011514089.1:c.2999G>T | XP_011512391.1:p.Trp1000Leu | |
| XM_011514090.1:c.2681G>T | XP_011512392.1:p.Trp894Leu | |
| XM_011514091.1:c.2327G>T | XP_011512393.1:p.Trp776Leu | |
| XM_011514092.1:c.2999G>T | XP_011512394.1:p.Trp1000Leu | |
| XM_011514093.1:c.2999G>T | XP_011512395.1:p.Trp1000Leu | |
| XM_011514094.1:c.224G>T | XP_011512396.1:p.Trp75Leu | |
| XR_427661.2:n.3174G>T | ||
| XR_925644.1:n.3174G>T | ||
| XM_005248345.4:c.2999G>T | XP_005248402.1:p.Trp1000Leu | |
| XM_005248346.4:c.2999G>T | XP_005248403.1:p.Trp1000Leu | |
| XM_005248347.4:c.2999G>T | XP_005248404.1:p.Trp1000Leu | |
| XM_005248349.4:c.2999G>T | XP_005248406.1:p.Trp1000Leu | |
| XM_005248350.4:c.2921-51G>T | XP_005248407.1:n.2921-51G>T | |
| XM_011514085.3:c.2999G>T | XP_011512387.1:p.Trp1000Leu | |
| XM_011514086.3:c.2999G>T | XP_011512388.1:p.Trp1000Leu | |
| XM_011514087.2:c.2999G>T | XP_011512389.1:p.Trp1000Leu | |
| XM_011514088.2:c.2999G>T | XP_011512390.1:p.Trp1000Leu | |
| XM_011514089.2:c.2999G>T | XP_011512391.1:p.Trp1000Leu | |
| XM_011514090.3:c.2681G>T | XP_011512392.1:p.Trp894Leu | |
| XM_011514092.2:c.2999G>T | XP_011512394.1:p.Trp1000Leu | |
| XM_011514094.2:c.224G>T | XP_011512396.1:p.Trp75Leu | |
| XM_017009760.1:c.2810G>T | XP_016865249.1:p.Trp937Leu | |
| XM_017009761.2:c.2810G>T | XP_016865250.1:p.Trp937Leu | |
| XM_017009763.1:c.2006G>T | XP_016865252.1:p.Trp669Leu | |
| XM_017009765.1:c.1811G>T | XP_016865254.1:p.Trp604Leu | |
| XM_017009766.1:c.-506G>T | XP_016865255.1:n.-506G>T | |
| XM_024446183.1:c.2810G>T | XP_024301951.1:p.Trp937Leu | |
| XM_024446184.1:c.2681G>T | XP_024301952.1:p.Trp894Leu | |
| XM_024446185.1:c.2327G>T | XP_024301953.1:p.Trp776Leu | |
| XM_024446186.1:c.2006G>T | XP_024301954.1:p.Trp669Leu | |
| XR_001742208.1:n.3223G>T | ||
| XR_002956171.1:n.3223G>T | ||
| XR_925644.2:n.3223G>T | ||
| NM_001384732.1:c.2999G>T MANE Select | NP_001371661.1:p.Trp1000Leu | |
| NM_023073.4:c.2999G>T | NP_075561.3:p.Trp1000Leu |