Linked Data
ClinVar Variation Id:
936317
ClinVar RCV Id:
RCV001205095
dbSNP Id:
rs777178240
ExAC:
1:215953275 T / C
gnomAD v2:
1-215953275-T-C
gnomAD v3:
1-215779933-T-C
gnomAD v4:
1-215779933-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779933T>C , CM000663.2:g.215779933T>C | GRCh38 |
| NC_000001.10:g.215953275T>C , CM000663.1:g.215953275T>C | GRCh37 |
| NC_000001.9:g.214019898T>C | NCBI36 |
| NG_009497.1:g.648464A>G | |
| NG_009497.2:g.648516A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10849A>G MANE Select | ENSP00000305941.3:p.Asn3617Asp | |
| ENST00000674083.1:c.10849A>G | ENSP00000501296.1:p.Asn3617Asp | |
| ENST00000307340.7:c.10849A>G | ENSP00000305941.3:p.Asn3617Asp | |
| NM_206933.2:c.10849A>G | NP_996816.2:p.Asn3617Asp | |
| NM_206933.3:c.10849A>G | NP_996816.2:p.Asn3617Asp | |
| NM_206933.4:c.10849A>G MANE Select | NP_996816.3:p.Asn3617Asp |