Linked Data
ClinVar Variation Id:
287816
ClinVar RCV Id:
RCV000356385
RCV000487973
RCV001085395
RCV000675073
RCV001449928
RCV003448906
RCV004549599
dbSNP Id:
rs115407852
ExAC:
2:71908183 G / A
gnomAD v2:
2-71908183-G-A
gnomAD v3:
2-71681053-G-A
gnomAD v4:
2-71681053-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71681053G>A , CM000664.2:g.71681053G>A | GRCh38 |
| NC_000002.11:g.71908183G>A , CM000664.1:g.71908183G>A | GRCh37 |
| NC_000002.10:g.71761691G>A | NCBI36 |
| NG_008694.1:g.232431G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3530G>A | ENSP00000513536.1:p.Arg1177Gln | |
| ENST00000698058.1:c.2747G>A | ENSP00000513537.1:p.Arg916Gln | |
| ENST00000698059.1:c.2855G>A | ENSP00000513538.1:p.Arg952Gln | |
| ENST00000258104.8:c.5999G>A MANE Plus Clinical | ENSP00000258104.3:p.Arg2000Gln | |
| ENST00000410020.8:c.6116G>A MANE Select | ENSP00000386881.3:p.Arg2039Gln | |
| ENST00000258104.7:c.5999G>A | ENSP00000258104.3:p.Arg2000Gln | |
| ENST00000394120.6:c.6002G>A | ENSP00000377678.2:p.Arg2001Gln | |
| ENST00000409366.5:c.6065G>A | ENSP00000386512.1:p.Arg2022Gln | |
| ENST00000409582.7:c.6113G>A | ENSP00000386547.3:p.Arg2038Gln | |
| ENST00000409651.5:c.6095G>A | ENSP00000386683.1:p.Arg2032Gln | |
| ENST00000409744.5:c.6023G>A | ENSP00000386285.1:p.Arg2008Gln | |
| ENST00000409762.5:c.6050G>A | ENSP00000387137.1:p.Arg2017Gln | |
| ENST00000410020.7:c.6116G>A | ENSP00000386881.3:p.Arg2039Gln | |
| ENST00000410041.1:c.6053G>A | ENSP00000386617.1:p.Arg2018Gln | |
| ENST00000413539.6:c.6092G>A | ENSP00000407046.2:p.Arg2031Gln | |
| ENST00000429174.6:c.6062G>A | ENSP00000398305.2:p.Arg2021Gln | |
| ENST00000479049.6:n.2884G>A | ||
| NM_001130455.1:c.6002G>A | NP_001123927.1:p.Arg2001Gln | |
| NM_001130976.1:c.5957G>A | NP_001124448.1:p.Arg1986Gln | |
| NM_001130977.1:c.6020G>A | NP_001124449.1:p.Arg2007Gln | |
| NM_001130978.1:c.6062G>A | NP_001124450.1:p.Arg2021Gln | |
| NM_001130979.1:c.6092G>A | NP_001124451.1:p.Arg2031Gln | |
| NM_001130980.1:c.6050G>A | NP_001124452.1:p.Arg2017Gln | |
| NM_001130981.1:c.6113G>A | NP_001124453.1:p.Arg2038Gln | |
| NM_001130982.1:c.6095G>A | NP_001124454.1:p.Arg2032Gln | |
| NM_001130983.1:c.6065G>A | NP_001124455.1:p.Arg2022Gln | |
| NM_001130984.1:c.6023G>A | NP_001124456.1:p.Arg2008Gln | |
| NM_001130985.1:c.6053G>A | NP_001124457.1:p.Arg2018Gln | |
| NM_001130986.1:c.5960G>A | NP_001124458.1:p.Arg1987Gln | |
| NM_001130987.1:c.6116G>A | NP_001124459.1:p.Arg2039Gln | |
| NM_003494.3:c.5999G>A | NP_003485.1:p.Arg2000Gln | |
| XM_005264584.3:c.6158G>A | XP_005264641.1:p.Arg2053Gln | |
| XM_005264585.3:c.6155G>A | XP_005264642.1:p.Arg2052Gln | |
| XM_005264584.4:c.6158G>A | XP_005264641.1:p.Arg2053Gln | |
| XM_005264585.5:c.6155G>A | XP_005264642.1:p.Arg2052Gln | |
| NM_001130987.2:c.6116G>A MANE Select | NP_001124459.1:p.Arg2039Gln | |
| NM_001130455.2:c.6002G>A | NP_001123927.1:p.Arg2001Gln | |
| NM_001130976.2:c.5957G>A | NP_001124448.1:p.Arg1986Gln | |
| NM_001130977.2:c.6020G>A | NP_001124449.1:p.Arg2007Gln | |
| NM_001130978.2:c.6062G>A | NP_001124450.1:p.Arg2021Gln | |
| NM_001130979.2:c.6092G>A | NP_001124451.1:p.Arg2031Gln | |
| NM_001130980.2:c.6050G>A | NP_001124452.1:p.Arg2017Gln | |
| NM_001130981.2:c.6113G>A | NP_001124453.1:p.Arg2038Gln | |
| NM_001130982.2:c.6095G>A | NP_001124454.1:p.Arg2032Gln | |
| NM_001130983.2:c.6065G>A | NP_001124455.1:p.Arg2022Gln | |
| NM_001130984.2:c.6023G>A | NP_001124456.1:p.Arg2008Gln | |
| NM_001130985.2:c.6053G>A | NP_001124457.1:p.Arg2018Gln | |
| NM_001130986.2:c.5960G>A | NP_001124458.1:p.Arg1987Gln | |
| NM_003494.4:c.5999G>A MANE Plus Clinical | NP_003485.1:p.Arg2000Gln |