Linked Data
ClinVar Variation Id:
1419948
ClinVar RCV Id:
RCV001910739
dbSNP Id:
rs780709921
ExAC:
1:216040475 T / G
gnomAD v2:
1-216040475-T-G
gnomAD v3:
1-215867133-T-G
gnomAD v4:
1-215867133-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867133T>G , CM000663.2:g.215867133T>G | GRCh38 |
| NC_000001.10:g.216040475T>G , CM000663.1:g.216040475T>G | GRCh37 |
| NC_000001.9:g.214107098T>G | NCBI36 |
| NG_009497.1:g.561264A>C | |
| NG_009497.2:g.561316A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8719A>C MANE Select | ENSP00000305941.3:p.Ser2907Arg | |
| ENST00000674083.1:c.8719A>C | ENSP00000501296.1:p.Ser2907Arg | |
| ENST00000307340.7:c.8719A>C | ENSP00000305941.3:p.Ser2907Arg | |
| NM_206933.2:c.8719A>C | NP_996816.2:p.Ser2907Arg | |
| NM_206933.3:c.8719A>C | NP_996816.2:p.Ser2907Arg | |
| NM_206933.4:c.8719A>C MANE Select | NP_996816.3:p.Ser2907Arg |