Linked Data
ClinVar Variation Id:
197967
ClinVar RCV Id:
RCV000352290
RCV000401726
RCV000724811
RCV001080306
RCV001276873
RCV003243003
RCV003977471
dbSNP Id:
rs143762717
ExAC:
2:71909660 G / A
gnomAD v2:
2-71909660-G-A
gnomAD v3:
2-71682530-G-A
gnomAD v4:
2-71682530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71682530G>A , CM000664.2:g.71682530G>A | GRCh38 |
| NC_000002.11:g.71909660G>A , CM000664.1:g.71909660G>A | GRCh37 |
| NC_000002.10:g.71763168G>A | NCBI36 |
| NG_008694.1:g.233908G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3588G>A | ENSP00000513536.1:p.Arg1196= | |
| ENST00000698058.1:c.2805G>A | ENSP00000513537.1:p.Arg935= | |
| ENST00000698059.1:c.2913G>A | ENSP00000513538.1:p.Arg971= | |
| ENST00000258104.8:c.6057G>A MANE Plus Clinical | ENSP00000258104.3:p.Arg2019= | |
| ENST00000410020.8:c.6174G>A MANE Select | ENSP00000386881.3:p.Arg2058= | |
| ENST00000258104.7:c.6057G>A | ENSP00000258104.3:p.Arg2019= | |
| ENST00000394120.6:c.6060G>A | ENSP00000377678.2:p.Arg2020= | |
| ENST00000409366.5:c.6123G>A | ENSP00000386512.1:p.Arg2041= | |
| ENST00000409582.7:c.6171G>A | ENSP00000386547.3:p.Arg2057= | |
| ENST00000409651.5:c.6153G>A | ENSP00000386683.1:p.Arg2051= | |
| ENST00000409744.5:c.6081G>A | ENSP00000386285.1:p.Arg2027= | |
| ENST00000409762.5:c.6108G>A | ENSP00000387137.1:p.Arg2036= | |
| ENST00000410020.7:c.6174G>A | ENSP00000386881.3:p.Arg2058= | |
| ENST00000410041.1:c.6111G>A | ENSP00000386617.1:p.Arg2037= | |
| ENST00000413539.6:c.6150G>A | ENSP00000407046.2:p.Arg2050= | |
| ENST00000429174.6:c.6120G>A | ENSP00000398305.2:p.Arg2040= | |
| ENST00000479049.6:n.2942G>A | ||
| NM_001130455.1:c.6060G>A | NP_001123927.1:p.Arg2020= | |
| NM_001130976.1:c.6015G>A | NP_001124448.1:p.Arg2005= | |
| NM_001130977.1:c.6078G>A | NP_001124449.1:p.Arg2026= | |
| NM_001130978.1:c.6120G>A | NP_001124450.1:p.Arg2040= | |
| NM_001130979.1:c.6150G>A | NP_001124451.1:p.Arg2050= | |
| NM_001130980.1:c.6108G>A | NP_001124452.1:p.Arg2036= | |
| NM_001130981.1:c.6171G>A | NP_001124453.1:p.Arg2057= | |
| NM_001130982.1:c.6153G>A | NP_001124454.1:p.Arg2051= | |
| NM_001130983.1:c.6123G>A | NP_001124455.1:p.Arg2041= | |
| NM_001130984.1:c.6081G>A | NP_001124456.1:p.Arg2027= | |
| NM_001130985.1:c.6111G>A | NP_001124457.1:p.Arg2037= | |
| NM_001130986.1:c.6018G>A | NP_001124458.1:p.Arg2006= | |
| NM_001130987.1:c.6174G>A | NP_001124459.1:p.Arg2058= | |
| NM_003494.3:c.6057G>A | NP_003485.1:p.Arg2019= | |
| XM_005264584.3:c.6216G>A | XP_005264641.1:p.Arg2072= | |
| XM_005264585.3:c.6213G>A | XP_005264642.1:p.Arg2071= | |
| XM_005264584.4:c.6216G>A | XP_005264641.1:p.Arg2072= | |
| XM_005264585.5:c.6213G>A | XP_005264642.1:p.Arg2071= | |
| NM_001130987.2:c.6174G>A MANE Select | NP_001124459.1:p.Arg2058= | |
| NM_001130455.2:c.6060G>A | NP_001123927.1:p.Arg2020= | |
| NM_001130976.2:c.6015G>A | NP_001124448.1:p.Arg2005= | |
| NM_001130977.2:c.6078G>A | NP_001124449.1:p.Arg2026= | |
| NM_001130978.2:c.6120G>A | NP_001124450.1:p.Arg2040= | |
| NM_001130979.2:c.6150G>A | NP_001124451.1:p.Arg2050= | |
| NM_001130980.2:c.6108G>A | NP_001124452.1:p.Arg2036= | |
| NM_001130981.2:c.6171G>A | NP_001124453.1:p.Arg2057= | |
| NM_001130982.2:c.6153G>A | NP_001124454.1:p.Arg2051= | |
| NM_001130983.2:c.6123G>A | NP_001124455.1:p.Arg2041= | |
| NM_001130984.2:c.6081G>A | NP_001124456.1:p.Arg2027= | |
| NM_001130985.2:c.6111G>A | NP_001124457.1:p.Arg2037= | |
| NM_001130986.2:c.6018G>A | NP_001124458.1:p.Arg2006= | |
| NM_003494.4:c.6057G>A MANE Plus Clinical | NP_003485.1:p.Arg2019= |