Linked Data
ClinVar Variation Id:
353455
dbSNP Id:
rs200449169
ExAC:
5:37201750 G / A
gnomAD v2:
5-37201750-G-A
gnomAD v3:
5-37201648-G-A
gnomAD v4:
5-37201648-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37201648G>A , CM000667.2:g.37201648G>A | GRCh38 |
| NC_000005.9:g.37201750G>A , CM000667.1:g.37201750G>A | GRCh37 |
| NC_000005.8:g.37237507G>A | NCBI36 |
| NG_032772.1:g.52781C>T | |
| NG_032772.2:g.52781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425232.7:c.2954C>T | ||
| ENST00000651892.2:c.3450C>T MANE Select | ENSP00000498265.2:p.Phe1150= | |
| ENST00000676290.1:n.3525C>T | ||
| ENST00000425232.6:c.3450C>T | ENSP00000389014.2:p.Phe1150= | |
| ENST00000508244.5:c.3450C>T | ENSP00000421690.1:p.Phe1150= | |
| ENST00000509849.5:c.465C>T | ENSP00000426337.1:p.Phe155= | |
| ENST00000514429.5:c.594C>T | ENSP00000424223.1:p.Phe198= | |
| NM_023073.3:c.3450C>T | NP_075561.3:p.Phe1150= | |
| XM_005248345.2:c.3450C>T | XP_005248402.1:p.Phe1150= | |
| XM_005248346.2:c.3450C>T | XP_005248403.1:p.Phe1150= | |
| XM_005248347.2:c.3450C>T | XP_005248404.1:p.Phe1150= | |
| XM_005248349.2:c.3450C>T | XP_005248406.1:p.Phe1150= | |
| XM_005248350.2:c.3321C>T | XP_005248407.1:p.Phe1107= | |
| XM_005248353.3:c.93C>T | XP_005248410.1:p.Phe31= | |
| XM_006714489.2:c.3450C>T | XP_006714552.1:p.Phe1150= | |
| XM_011514085.1:c.3450C>T | XP_011512387.1:p.Phe1150= | |
| XM_011514086.1:c.3450C>T | XP_011512388.1:p.Phe1150= | |
| XM_011514087.1:c.3450C>T | XP_011512389.1:p.Phe1150= | |
| XM_011514088.1:c.3450C>T | XP_011512390.1:p.Phe1150= | |
| XM_011514089.1:c.3450C>T | XP_011512391.1:p.Phe1150= | |
| XM_011514090.1:c.3132C>T | XP_011512392.1:p.Phe1044= | |
| XM_011514091.1:c.2778C>T | XP_011512393.1:p.Phe926= | |
| XM_011514092.1:c.3450C>T | XP_011512394.1:p.Phe1150= | |
| XM_011514093.1:c.3450C>T | XP_011512395.1:p.Phe1150= | |
| XM_011514094.1:c.675C>T | XP_011512396.1:p.Phe225= | |
| XR_427661.2:n.3625C>T | ||
| XR_925644.1:n.3625C>T | ||
| XM_005248345.4:c.3450C>T | XP_005248402.1:p.Phe1150= | |
| XM_005248346.4:c.3450C>T | XP_005248403.1:p.Phe1150= | |
| XM_005248347.4:c.3450C>T | XP_005248404.1:p.Phe1150= | |
| XM_005248349.4:c.3450C>T | XP_005248406.1:p.Phe1150= | |
| XM_005248350.4:c.3321C>T | XP_005248407.1:p.Phe1107= | |
| XM_011514085.3:c.3450C>T | XP_011512387.1:p.Phe1150= | |
| XM_011514086.3:c.3450C>T | XP_011512388.1:p.Phe1150= | |
| XM_011514087.2:c.3450C>T | XP_011512389.1:p.Phe1150= | |
| XM_011514088.2:c.3450C>T | XP_011512390.1:p.Phe1150= | |
| XM_011514089.2:c.3450C>T | XP_011512391.1:p.Phe1150= | |
| XM_011514090.3:c.3132C>T | XP_011512392.1:p.Phe1044= | |
| XM_011514092.2:c.3450C>T | XP_011512394.1:p.Phe1150= | |
| XM_011514094.2:c.675C>T | XP_011512396.1:p.Phe225= | |
| XM_017009760.1:c.3261C>T | XP_016865249.1:p.Phe1087= | |
| XM_017009761.2:c.3261C>T | XP_016865250.1:p.Phe1087= | |
| XM_017009763.1:c.2457C>T | XP_016865252.1:p.Phe819= | |
| XM_017009765.1:c.2262C>T | XP_016865254.1:p.Phe754= | |
| XM_017009766.1:c.93C>T | XP_016865255.1:p.Phe31= | |
| XM_024446183.1:c.3261C>T | XP_024301951.1:p.Phe1087= | |
| XM_024446184.1:c.3132C>T | XP_024301952.1:p.Phe1044= | |
| XM_024446185.1:c.2778C>T | XP_024301953.1:p.Phe926= | |
| XM_024446186.1:c.2457C>T | XP_024301954.1:p.Phe819= | |
| XR_001742208.1:n.3674C>T | ||
| XR_002956171.1:n.3674C>T | ||
| XR_925644.2:n.3674C>T | ||
| NM_001384732.1:c.3450C>T MANE Select | NP_001371661.1:p.Phe1150= | |
| NM_023073.4:c.3450C>T | NP_075561.3:p.Phe1150= |