Linked Data
ClinVar Variation Id:
500090
dbSNP Id:
rs545645581
ExAC:
2:71894550 C / T
gnomAD v2:
2-71894550-C-T
gnomAD v3:
2-71667420-C-T
gnomAD v4:
2-71667420-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71667420C>T , CM000664.2:g.71667420C>T | GRCh38 |
| NC_000002.11:g.71894550C>T , CM000664.1:g.71894550C>T | GRCh37 |
| NC_000002.10:g.71748058C>T | NCBI36 |
| NG_008694.1:g.218798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2776C>T | ENSP00000513536.1:p.Arg926Cys | |
| ENST00000698058.1:c.1993C>T | ENSP00000513537.1:p.Arg665Cys | |
| ENST00000698059.1:c.2101C>T | ENSP00000513538.1:p.Arg701Cys | |
| ENST00000258104.8:c.5245C>T MANE Plus Clinical | ENSP00000258104.3:p.Arg1749Cys | |
| ENST00000410020.8:c.5362C>T MANE Select | ENSP00000386881.3:p.Arg1788Cys | |
| ENST00000258104.7:c.5245C>T | ENSP00000258104.3:p.Arg1749Cys | |
| ENST00000394120.6:c.5248C>T | ENSP00000377678.2:p.Arg1750Cys | |
| ENST00000409366.5:c.5311C>T | ENSP00000386512.1:p.Arg1771Cys | |
| ENST00000409582.7:c.5359C>T | ENSP00000386547.3:p.Arg1787Cys | |
| ENST00000409651.5:c.5341C>T | ENSP00000386683.1:p.Arg1781Cys | |
| ENST00000409744.5:c.5269C>T | ENSP00000386285.1:p.Arg1757Cys | |
| ENST00000409762.5:c.5296C>T | ENSP00000387137.1:p.Arg1766Cys | |
| ENST00000410020.7:c.5362C>T | ENSP00000386881.3:p.Arg1788Cys | |
| ENST00000410041.1:c.5299C>T | ENSP00000386617.1:p.Arg1767Cys | |
| ENST00000413539.6:c.5338C>T | ENSP00000407046.2:p.Arg1780Cys | |
| ENST00000429174.6:c.5308C>T | ENSP00000398305.2:p.Arg1770Cys | |
| ENST00000479049.6:n.2130C>T | ||
| NM_001130455.1:c.5248C>T | NP_001123927.1:p.Arg1750Cys | |
| NM_001130976.1:c.5203C>T | NP_001124448.1:p.Arg1735Cys | |
| NM_001130977.1:c.5266C>T | NP_001124449.1:p.Arg1756Cys | |
| NM_001130978.1:c.5308C>T | NP_001124450.1:p.Arg1770Cys | |
| NM_001130979.1:c.5338C>T | NP_001124451.1:p.Arg1780Cys | |
| NM_001130980.1:c.5296C>T | NP_001124452.1:p.Arg1766Cys | |
| NM_001130981.1:c.5359C>T | NP_001124453.1:p.Arg1787Cys | |
| NM_001130982.1:c.5341C>T | NP_001124454.1:p.Arg1781Cys | |
| NM_001130983.1:c.5311C>T | NP_001124455.1:p.Arg1771Cys | |
| NM_001130984.1:c.5269C>T | NP_001124456.1:p.Arg1757Cys | |
| NM_001130985.1:c.5299C>T | NP_001124457.1:p.Arg1767Cys | |
| NM_001130986.1:c.5206C>T | NP_001124458.1:p.Arg1736Cys | |
| NM_001130987.1:c.5362C>T | NP_001124459.1:p.Arg1788Cys | |
| NM_003494.3:c.5245C>T | NP_003485.1:p.Arg1749Cys | |
| XM_005264584.3:c.5404C>T | XP_005264641.1:p.Arg1802Cys | |
| XM_005264585.3:c.5401C>T | XP_005264642.1:p.Arg1801Cys | |
| XM_005264584.4:c.5404C>T | XP_005264641.1:p.Arg1802Cys | |
| XM_005264585.5:c.5401C>T | XP_005264642.1:p.Arg1801Cys | |
| NM_001130987.2:c.5362C>T MANE Select | NP_001124459.1:p.Arg1788Cys | |
| NM_001130455.2:c.5248C>T | NP_001123927.1:p.Arg1750Cys | |
| NM_001130976.2:c.5203C>T | NP_001124448.1:p.Arg1735Cys | |
| NM_001130977.2:c.5266C>T | NP_001124449.1:p.Arg1756Cys | |
| NM_001130978.2:c.5308C>T | NP_001124450.1:p.Arg1770Cys | |
| NM_001130979.2:c.5338C>T | NP_001124451.1:p.Arg1780Cys | |
| NM_001130980.2:c.5296C>T | NP_001124452.1:p.Arg1766Cys | |
| NM_001130981.2:c.5359C>T | NP_001124453.1:p.Arg1787Cys | |
| NM_001130982.2:c.5341C>T | NP_001124454.1:p.Arg1781Cys | |
| NM_001130983.2:c.5311C>T | NP_001124455.1:p.Arg1771Cys | |
| NM_001130984.2:c.5269C>T | NP_001124456.1:p.Arg1757Cys | |
| NM_001130985.2:c.5299C>T | NP_001124457.1:p.Arg1767Cys | |
| NM_001130986.2:c.5206C>T | NP_001124458.1:p.Arg1736Cys | |
| NM_003494.4:c.5245C>T MANE Plus Clinical | NP_003485.1:p.Arg1749Cys |