Linked Data
ClinVar Variation Id:
353421
dbSNP Id:
rs147426388
ExAC:
5:37138936 G / A
gnomAD v2:
5-37138936-G-A
gnomAD v3:
5-37138834-G-A
gnomAD v4:
5-37138834-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37138834G>A , CM000667.2:g.37138834G>A | GRCh38 |
| NC_000005.9:g.37138936G>A , CM000667.1:g.37138936G>A | GRCh37 |
| NC_000005.8:g.37174693G>A | NCBI36 |
| NG_032772.1:g.115595C>T | |
| NG_032772.2:g.115595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1677C>T | ||
| ENST00000651892.2:c.8678C>T MANE Select | ENSP00000498265.2:p.Pro2893Leu | |
| ENST00000425232.6:c.8516C>T | ENSP00000389014.2:p.Pro2839Leu | |
| ENST00000504716.1:n.263C>T | ||
| ENST00000505121.1:n.378C>T | ||
| ENST00000508244.5:c.8516C>T | ENSP00000421690.1:p.Pro2839Leu | |
| ENST00000508405.1:n.379C>T | ||
| ENST00000509849.5:c.5659C>T | ENSP00000426337.1:p.Arg1887Cys | |
| ENST00000509957.5:n.3859C>T | ||
| ENST00000512288.5:n.227C>T | ||
| ENST00000514429.5:c.5714C>T | ENSP00000424223.1:p.Pro1905Leu | |
| NM_023073.3:c.8516C>T | NP_075561.3:p.Pro2839Leu | |
| XM_005248345.2:c.8678C>T | XP_005248402.1:p.Pro2893Leu | |
| XM_005248346.2:c.8675C>T | XP_005248403.1:p.Pro2892Leu | |
| XM_005248347.2:c.8675C>T | XP_005248404.1:p.Pro2892Leu | |
| XM_005248349.2:c.8567C>T | XP_005248406.1:p.Pro2856Leu | |
| XM_005248350.2:c.8549C>T | XP_005248407.1:p.Pro2850Leu | |
| XM_005248353.3:c.5321C>T | XP_005248410.1:p.Pro1774Leu | |
| XM_006714489.2:c.8678C>T | XP_006714552.1:p.Pro2893Leu | |
| XM_006714491.2:c.3251C>T | XP_006714554.1:p.Pro1084Leu | |
| XM_011514085.1:c.8678C>T | XP_011512387.1:p.Pro2893Leu | |
| XM_011514086.1:c.8678C>T | XP_011512388.1:p.Pro2893Leu | |
| XM_011514087.1:c.8624C>T | XP_011512389.1:p.Pro2875Leu | |
| XM_011514088.1:c.8570C>T | XP_011512390.1:p.Pro2857Leu | |
| XM_011514089.1:c.8678C>T | XP_011512391.1:p.Pro2893Leu | |
| XM_011514090.1:c.8360C>T | XP_011512392.1:p.Pro2787Leu | |
| XM_011514091.1:c.8006C>T | XP_011512393.1:p.Pro2669Leu | |
| XM_011514092.1:c.8678C>T | XP_011512394.1:p.Pro2893Leu | |
| XM_011514094.1:c.5903C>T | XP_011512396.1:p.Pro1968Leu | |
| XR_427661.2:n.8853C>T | ||
| XR_925644.1:n.8853C>T | ||
| XM_005248345.4:c.8678C>T | XP_005248402.1:p.Pro2893Leu | |
| XM_005248346.4:c.8675C>T | XP_005248403.1:p.Pro2892Leu | |
| XM_005248347.4:c.8675C>T | XP_005248404.1:p.Pro2892Leu | |
| XM_005248349.4:c.8567C>T | XP_005248406.1:p.Pro2856Leu | |
| XM_005248350.4:c.8549C>T | XP_005248407.1:p.Pro2850Leu | |
| XM_006714491.3:c.3251C>T | XP_006714554.1:p.Pro1084Leu | |
| XM_011514085.3:c.8678C>T | XP_011512387.1:p.Pro2893Leu | |
| XM_011514086.3:c.8678C>T | XP_011512388.1:p.Pro2893Leu | |
| XM_011514087.2:c.8624C>T | XP_011512389.1:p.Pro2875Leu | |
| XM_011514088.2:c.8570C>T | XP_011512390.1:p.Pro2857Leu | |
| XM_011514089.2:c.8678C>T | XP_011512391.1:p.Pro2893Leu | |
| XM_011514090.3:c.8360C>T | XP_011512392.1:p.Pro2787Leu | |
| XM_011514092.2:c.8678C>T | XP_011512394.1:p.Pro2893Leu | |
| XM_011514094.2:c.5903C>T | XP_011512396.1:p.Pro1968Leu | |
| XM_017009760.1:c.8489C>T | XP_016865249.1:p.Pro2830Leu | |
| XM_017009761.2:c.8489C>T | XP_016865250.1:p.Pro2830Leu | |
| XM_017009763.1:c.7685C>T | XP_016865252.1:p.Pro2562Leu | |
| XM_017009765.1:c.7490C>T | XP_016865254.1:p.Pro2497Leu | |
| XM_017009766.1:c.5321C>T | XP_016865255.1:p.Pro1774Leu | |
| XM_024446183.1:c.8489C>T | XP_024301951.1:p.Pro2830Leu | |
| XM_024446184.1:c.8360C>T | XP_024301952.1:p.Pro2787Leu | |
| XM_024446185.1:c.8006C>T | XP_024301953.1:p.Pro2669Leu | |
| XM_024446186.1:c.7685C>T | XP_024301954.1:p.Pro2562Leu | |
| XR_001742208.1:n.8847C>T | ||
| XR_925644.2:n.8902C>T | ||
| NM_001384732.1:c.8678C>T MANE Select | NP_001371661.1:p.Pro2893Leu | |
| NM_023073.4:c.8516C>T | NP_075561.3:p.Pro2839Leu |