Linked Data
ClinVar Variation Id:
447344
dbSNP Id:
rs781823700
ExAC:
X:153579367 T / G
gnomAD v2:
X-153579367-T-G
gnomAD v3:
X-154350999-T-G
gnomAD v4:
X-154350999-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154350999T>G , CM000685.2:g.154350999T>G | GRCh38 |
| NC_000023.10:g.153579367T>G , CM000685.1:g.153579367T>G | GRCh37 |
| NC_000023.9:g.153232561T>G | NCBI36 |
| NG_011506.1:g.28640A>C | |
| NG_011506.2:g.28640A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7042A>C | ENSP00000353467.4:p.Ser2348Arg | |
| ENST00000369850.10:c.7066A>C MANE Select | ENSP00000358866.3:p.Ser2356Arg | |
| ENST00000369856.8:c.6985A>C | ENSP00000358872.4:p.Ser2329Arg | |
| ENST00000422373.6:c.3847A>C | ENSP00000416926.2:p.Ser1283Arg | |
| ENST00000610817.5:c.7123A>C | ENSP00000480593.2:n.7123A>C | |
| ENST00000673639.2:c.280-2309A>C | ||
| ENST00000676696.1:c.7345A>C | ENSP00000503392.1:n.7345A>C | |
| ENST00000678304.1:n.2784A>C | ||
| ENST00000344736.8:c.6946A>C | ENSP00000358863.3:p.Ser2316Arg | |
| ENST00000360319.8:c.7042A>C | ENSP00000353467.4:p.Ser2348Arg | |
| ENST00000369850.7:c.7066A>C | ENSP00000358866.3:p.Ser2356Arg | |
| ENST00000369856.7:c.6985A>C | ENSP00000358872.4:p.Ser2329Arg | |
| ENST00000420627.5:c.7022A>C | ENSP00000408921.1:n.7022A>C | |
| ENST00000422373.5:c.7042A>C | ENSP00000416926.1:p.Ser2348Arg | |
| ENST00000490936.5:n.3594A>C | ||
| ENST00000498411.1:n.67+1818A>C | ||
| ENST00000498491.5:n.107A>C | ||
| ENST00000610817.4:c.6070A>C | ENSP00000480593.1:p.Ser2024Arg | |
| NM_001110556.1:c.7066A>C | NP_001104026.1:p.Ser2356Arg | |
| NM_001456.3:c.7042A>C | NP_001447.2:p.Ser2348Arg | |
| XM_011531127.1:c.6970A>C | XP_011529429.1:p.Ser2324Arg | |
| XM_011531128.1:c.6946A>C | XP_011529430.1:p.Ser2316Arg | |
| XM_011531129.1:c.6892A>C | XP_011529431.1:p.Ser2298Arg | |
| XM_011531130.1:c.6868A>C | XP_011529432.1:p.Ser2290Arg | |
| XM_011531131.1:c.6865A>C | XP_011529433.1:p.Ser2289Arg | |
| NM_001110556.2:c.7066A>C MANE Select | NP_001104026.1:p.Ser2356Arg | |
| NM_001456.4:c.7042A>C | NP_001447.2:p.Ser2348Arg |