Linked Data
ClinVar Variation Id:
1549876
ClinVar RCV Id:
RCV002183012
dbSNP Id:
rs2102713589
gnomAD v4:
1-215728228-T-G
MyVariant Identifiers:
chr1:g.215901570T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728228T>G , CM000663.2:g.215728228T>G | GRCh38 |
| NC_000001.10:g.215901570T>G , CM000663.1:g.215901570T>G | GRCh37 |
| NC_000001.9:g.213968193T>G | NCBI36 |
| NG_009497.1:g.700169A>C | |
| NG_009497.2:g.700221A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11868A>C MANE Select | ENSP00000305941.3:p.Ser3956= | |
| ENST00000674083.1:c.11868A>C | ENSP00000501296.1:p.Ser3956= | |
| ENST00000307340.7:c.11868A>C | ENSP00000305941.3:p.Ser3956= | |
| NM_206933.2:c.11868A>C | NP_996816.2:p.Ser3956= | |
| NM_206933.3:c.11868A>C | NP_996816.2:p.Ser3956= | |
| NM_206933.4:c.11868A>C MANE Select | NP_996816.3:p.Ser3956= |