Linked Data
ClinVar Variation Id:
2268047
ClinVar RCV Id:
RCV002809258
dbSNP Id:
rs754310768
gnomAD v2:
1-216073519-T-G
gnomAD v4:
1-215900177-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215900177T>G , CM000663.2:g.215900177T>G | GRCh38 |
| NC_000001.10:g.216073519T>G , CM000663.1:g.216073519T>G | GRCh37 |
| NC_000001.9:g.214140142T>G | NCBI36 |
| NG_009497.1:g.528220A>C | |
| NG_009497.2:g.528272A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.7492A>C MANE Select | ENSP00000305941.3:p.Ser2498Arg | |
| ENST00000674083.1:c.7492A>C | ENSP00000501296.1:p.Ser2498Arg | |
| ENST00000307340.7:c.7492A>C | ENSP00000305941.3:p.Ser2498Arg | |
| NM_206933.2:c.7492A>C | NP_996816.2:p.Ser2498Arg | |
| NM_206933.3:c.7492A>C | NP_996816.2:p.Ser2498Arg | |
| NM_206933.4:c.7492A>C MANE Select | NP_996816.3:p.Ser2498Arg |