Linked Data
ClinVar Variation Id:
2177665
ClinVar RCV Id:
RCV002585654
dbSNP Id:
rs201423077
ExAC:
5:37125347 G / A
gnomAD v2:
5-37125347-G-A
gnomAD v3:
5-37125245-G-A
gnomAD v4:
5-37125245-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37125245G>A , CM000667.2:g.37125245G>A | GRCh38 |
| NC_000005.9:g.37125347G>A , CM000667.1:g.37125347G>A | GRCh37 |
| NC_000005.8:g.37161104G>A | NCBI36 |
| NG_032772.1:g.129184C>T | |
| NG_032772.2:g.129184C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000510830.2:n.1956C>T | ||
| ENST00000651892.2:c.8957C>T MANE Select | ENSP00000498265.2:p.Pro2986Leu | |
| ENST00000676160.1:n.818C>T | ||
| ENST00000425232.6:c.8795C>T | ENSP00000389014.2:p.Pro2932Leu | |
| ENST00000508244.5:c.8795C>T | ENSP00000421690.1:p.Pro2932Leu | |
| ENST00000509849.5:c.5969C>T | ENSP00000426337.1:n.5969C>T | |
| ENST00000509957.5:n.4138C>T | ||
| ENST00000512288.5:n.342-3461C>T | ||
| ENST00000514429.5:c.5993C>T | ENSP00000424223.1:p.Pro1998Leu | |
| NM_023073.3:c.8795C>T | NP_075561.3:p.Pro2932Leu | |
| XM_005248345.2:c.8957C>T | XP_005248402.1:p.Pro2986Leu | |
| XM_005248346.2:c.8954C>T | XP_005248403.1:p.Pro2985Leu | |
| XM_005248347.2:c.8954C>T | XP_005248404.1:p.Pro2985Leu | |
| XM_005248349.2:c.8846C>T | XP_005248406.1:p.Pro2949Leu | |
| XM_005248350.2:c.8828C>T | XP_005248407.1:p.Pro2943Leu | |
| XM_005248353.3:c.5600C>T | XP_005248410.1:p.Pro1867Leu | |
| XM_006714489.2:c.8957C>T | XP_006714552.1:p.Pro2986Leu | |
| XM_006714491.2:c.3530C>T | XP_006714554.1:p.Pro1177Leu | |
| XM_011514085.1:c.8957C>T | XP_011512387.1:p.Pro2986Leu | |
| XM_011514086.1:c.8957C>T | XP_011512388.1:p.Pro2986Leu | |
| XM_011514087.1:c.8903C>T | XP_011512389.1:p.Pro2968Leu | |
| XM_011514088.1:c.8849C>T | XP_011512390.1:p.Pro2950Leu | |
| XM_011514089.1:c.8957C>T | XP_011512391.1:p.Pro2986Leu | |
| XM_011514090.1:c.8639C>T | XP_011512392.1:p.Pro2880Leu | |
| XM_011514091.1:c.8285C>T | XP_011512393.1:p.Pro2762Leu | |
| XM_011514092.1:c.8957C>T | XP_011512394.1:p.Pro2986Leu | |
| XM_011514094.1:c.6182C>T | XP_011512396.1:p.Pro2061Leu | |
| XR_427661.2:n.9132C>T | ||
| XR_925644.1:n.9132C>T | ||
| XM_005248345.4:c.8957C>T | XP_005248402.1:p.Pro2986Leu | |
| XM_005248346.4:c.8954C>T | XP_005248403.1:p.Pro2985Leu | |
| XM_005248347.4:c.8954C>T | XP_005248404.1:p.Pro2985Leu | |
| XM_005248349.4:c.8846C>T | XP_005248406.1:p.Pro2949Leu | |
| XM_005248350.4:c.8828C>T | XP_005248407.1:p.Pro2943Leu | |
| XM_006714491.3:c.3530C>T | XP_006714554.1:p.Pro1177Leu | |
| XM_011514085.3:c.8957C>T | XP_011512387.1:p.Pro2986Leu | |
| XM_011514086.3:c.8957C>T | XP_011512388.1:p.Pro2986Leu | |
| XM_011514087.2:c.8903C>T | XP_011512389.1:p.Pro2968Leu | |
| XM_011514088.2:c.8849C>T | XP_011512390.1:p.Pro2950Leu | |
| XM_011514089.2:c.8957C>T | XP_011512391.1:p.Pro2986Leu | |
| XM_011514090.3:c.8639C>T | XP_011512392.1:p.Pro2880Leu | |
| XM_011514092.2:c.8957C>T | XP_011512394.1:p.Pro2986Leu | |
| XM_011514094.2:c.6182C>T | XP_011512396.1:p.Pro2061Leu | |
| XM_017009760.1:c.8768C>T | XP_016865249.1:p.Pro2923Leu | |
| XM_017009761.2:c.8768C>T | XP_016865250.1:p.Pro2923Leu | |
| XM_017009763.1:c.7964C>T | XP_016865252.1:p.Pro2655Leu | |
| XM_017009765.1:c.7769C>T | XP_016865254.1:p.Pro2590Leu | |
| XM_017009766.1:c.5600C>T | XP_016865255.1:p.Pro1867Leu | |
| XM_024446183.1:c.8768C>T | XP_024301951.1:p.Pro2923Leu | |
| XM_024446184.1:c.8639C>T | XP_024301952.1:p.Pro2880Leu | |
| XM_024446185.1:c.8285C>T | XP_024301953.1:p.Pro2762Leu | |
| XM_024446186.1:c.7964C>T | XP_024301954.1:p.Pro2655Leu | |
| XR_925644.2:n.9181C>T | ||
| NM_001384732.1:c.8957C>T MANE Select | NP_001371661.1:p.Pro2986Leu | |
| NM_023073.4:c.8795C>T | NP_075561.3:p.Pro2932Leu |