Linked Data
ClinVar Variation Id:
288412
dbSNP Id:
rs201890095
ExAC:
2:71908167 A / C
gnomAD v2:
2-71908167-A-C
gnomAD v3:
2-71681037-A-C
gnomAD v4:
2-71681037-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71681037A>C , CM000664.2:g.71681037A>C | GRCh38 |
| NC_000002.11:g.71908167A>C , CM000664.1:g.71908167A>C | GRCh37 |
| NC_000002.10:g.71761675A>C | NCBI36 |
| NG_008694.1:g.232415A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3514A>C | ENSP00000513536.1:p.Ser1172Arg | |
| ENST00000698058.1:c.2731A>C | ENSP00000513537.1:p.Ser911Arg | |
| ENST00000698059.1:c.2839A>C | ENSP00000513538.1:p.Ser947Arg | |
| ENST00000258104.8:c.5983A>C MANE Plus Clinical | ENSP00000258104.3:p.Ser1995Arg | |
| ENST00000410020.8:c.6100A>C MANE Select | ENSP00000386881.3:p.Ser2034Arg | |
| ENST00000258104.7:c.5983A>C | ENSP00000258104.3:p.Ser1995Arg | |
| ENST00000394120.6:c.5986A>C | ENSP00000377678.2:p.Ser1996Arg | |
| ENST00000409366.5:c.6049A>C | ENSP00000386512.1:p.Ser2017Arg | |
| ENST00000409582.7:c.6097A>C | ENSP00000386547.3:p.Ser2033Arg | |
| ENST00000409651.5:c.6079A>C | ENSP00000386683.1:p.Ser2027Arg | |
| ENST00000409744.5:c.6007A>C | ENSP00000386285.1:p.Ser2003Arg | |
| ENST00000409762.5:c.6034A>C | ENSP00000387137.1:p.Ser2012Arg | |
| ENST00000410020.7:c.6100A>C | ENSP00000386881.3:p.Ser2034Arg | |
| ENST00000410041.1:c.6037A>C | ENSP00000386617.1:p.Ser2013Arg | |
| ENST00000413539.6:c.6076A>C | ENSP00000407046.2:p.Ser2026Arg | |
| ENST00000429174.6:c.6046A>C | ENSP00000398305.2:p.Ser2016Arg | |
| ENST00000479049.6:n.2868A>C | ||
| NM_001130455.1:c.5986A>C | NP_001123927.1:p.Ser1996Arg | |
| NM_001130976.1:c.5941A>C | NP_001124448.1:p.Ser1981Arg | |
| NM_001130977.1:c.6004A>C | NP_001124449.1:p.Ser2002Arg | |
| NM_001130978.1:c.6046A>C | NP_001124450.1:p.Ser2016Arg | |
| NM_001130979.1:c.6076A>C | NP_001124451.1:p.Ser2026Arg | |
| NM_001130980.1:c.6034A>C | NP_001124452.1:p.Ser2012Arg | |
| NM_001130981.1:c.6097A>C | NP_001124453.1:p.Ser2033Arg | |
| NM_001130982.1:c.6079A>C | NP_001124454.1:p.Ser2027Arg | |
| NM_001130983.1:c.6049A>C | NP_001124455.1:p.Ser2017Arg | |
| NM_001130984.1:c.6007A>C | NP_001124456.1:p.Ser2003Arg | |
| NM_001130985.1:c.6037A>C | NP_001124457.1:p.Ser2013Arg | |
| NM_001130986.1:c.5944A>C | NP_001124458.1:p.Ser1982Arg | |
| NM_001130987.1:c.6100A>C | NP_001124459.1:p.Ser2034Arg | |
| NM_003494.3:c.5983A>C | NP_003485.1:p.Ser1995Arg | |
| XM_005264584.3:c.6142A>C | XP_005264641.1:p.Ser2048Arg | |
| XM_005264585.3:c.6139A>C | XP_005264642.1:p.Ser2047Arg | |
| XM_005264584.4:c.6142A>C | XP_005264641.1:p.Ser2048Arg | |
| XM_005264585.5:c.6139A>C | XP_005264642.1:p.Ser2047Arg | |
| NM_001130987.2:c.6100A>C MANE Select | NP_001124459.1:p.Ser2034Arg | |
| NM_001130455.2:c.5986A>C | NP_001123927.1:p.Ser1996Arg | |
| NM_001130976.2:c.5941A>C | NP_001124448.1:p.Ser1981Arg | |
| NM_001130977.2:c.6004A>C | NP_001124449.1:p.Ser2002Arg | |
| NM_001130978.2:c.6046A>C | NP_001124450.1:p.Ser2016Arg | |
| NM_001130979.2:c.6076A>C | NP_001124451.1:p.Ser2026Arg | |
| NM_001130980.2:c.6034A>C | NP_001124452.1:p.Ser2012Arg | |
| NM_001130981.2:c.6097A>C | NP_001124453.1:p.Ser2033Arg | |
| NM_001130982.2:c.6079A>C | NP_001124454.1:p.Ser2027Arg | |
| NM_001130983.2:c.6049A>C | NP_001124455.1:p.Ser2017Arg | |
| NM_001130984.2:c.6007A>C | NP_001124456.1:p.Ser2003Arg | |
| NM_001130985.2:c.6037A>C | NP_001124457.1:p.Ser2013Arg | |
| NM_001130986.2:c.5944A>C | NP_001124458.1:p.Ser1982Arg | |
| NM_003494.4:c.5983A>C MANE Plus Clinical | NP_003485.1:p.Ser1995Arg |