Linked Data
dbSNP Id:
rs760541768
ExAC:
2:215609854 C / A
gnomAD v2:
2-215609854-C-A
gnomAD v4:
2-214745130-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214745130C>A , CM000664.2:g.214745130C>A | GRCh38 |
| NC_000002.11:g.215609854C>A , CM000664.1:g.215609854C>A | GRCh37 |
| NC_000002.10:g.215318099C>A | NCBI36 |
| NG_012047.2:g.69575G>T | |
| NG_012047.3:g.69582G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1840G>T MANE Select | ENSP00000260947.4:p.Val614Phe | |
| ENST00000421162.2:c.487G>T | ENSP00000392245.2:p.Val163Phe | |
| ENST00000613192.2:c.159-14622G>T | ENSP00000483275.2:n.159-14622G>T | |
| ENST00000613374.5:c.430G>T | ENSP00000484464.1:p.Val144Phe | |
| ENST00000613706.5:c.1432G>T | ENSP00000484976.2:p.Val478Phe | |
| ENST00000617164.5:c.1783G>T | ENSP00000480470.1:p.Val595Phe | |
| ENST00000619009.5:c.365-14622G>T | ENSP00000482293.1:n.365-14622G>T | |
| ENST00000650978.1:c.3215G>T | ||
| ENST00000260947.8:c.1840G>T | ENSP00000260947.4:p.Val614Phe | |
| ENST00000421162.1:c.487G>T | ENSP00000392245.1:p.Val163Phe | |
| ENST00000455743.5:c.*1460G>T | ENSP00000412186.1:n.*1460G>T | |
| ENST00000613192.1:c.74-14622G>T | ENSP00000483275.1:n.74-14622G>T | |
| ENST00000613374.4:c.430G>T | ENSP00000484464.1:p.Val144Phe | |
| ENST00000613706.4:c.487G>T | ENSP00000484976.1:p.Val163Phe | |
| ENST00000617164.4:c.1783G>T | ENSP00000480470.1:p.Val595Phe | |
| ENST00000619009.4:c.365-14622G>T | ENSP00000482293.1:n.365-14622G>T | |
| ENST00000620057.4:c.*506G>T | ENSP00000481988.1:n.*506G>T | |
| NM_000465.3:c.1840G>T | NP_000456.2:p.Val614Phe | |
| NM_001282543.1:c.1783G>T | NP_001269472.1:p.Val595Phe | |
| NM_001282545.1:c.487G>T | NP_001269474.1:p.Val163Phe | |
| NM_001282548.1:c.430G>T | NP_001269477.1:p.Val144Phe | |
| NM_001282549.1:c.365-14622G>T | NP_001269478.1:n.365-14622G>T | |
| NR_104212.1:n.1833G>T | ||
| NR_104215.1:n.1776G>T | ||
| NR_104216.1:n.1032G>T | ||
| XM_011511567.1:c.1786G>T | XP_011509869.1:p.Val596Phe | |
| XM_011511568.1:c.1840G>T | XP_011509870.1:p.Val614Phe | |
| XM_017004613.1:c.1939G>T | XP_016860102.1:p.Val647Phe | |
| XM_017004614.1:c.1939G>T | XP_016860103.1:p.Val647Phe | |
| XR_002959322.1:n.2030G>T | ||
| NM_000465.4:c.1840G>T MANE Select | NP_000456.2:p.Val614Phe | |
| NM_001282543.2:c.1783G>T | NP_001269472.1:p.Val595Phe | |
| NM_001282545.2:c.487G>T | NP_001269474.1:p.Val163Phe | |
| NM_001282548.2:c.430G>T | NP_001269477.1:p.Val144Phe | |
| NM_001282549.2:c.365-14622G>T | NP_001269478.1:n.365-14622G>T | |
| NR_104212.2:n.1805G>T | ||
| NR_104215.2:n.1748G>T | ||
| NR_104216.2:n.1004G>T |