Linked Data
ClinVar Variation Id:
919669
ClinVar RCV Id:
RCV001177981
dbSNP Id:
rs759881866
gnomAD v4:
2-21042383-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21042383C>T , CM000664.2:g.21042383C>T | GRCh38 |
| NC_000002.11:g.21265255C>T , CM000664.1:g.21265255C>T | GRCh37 |
| NC_000002.10:g.21118760C>T | NCBI36 |
| NG_011793.1:g.6691G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.215G>A | ENSP00000501110.2:p.Ser72Asn | |
| ENST00000673882.2:c.215G>A | ENSP00000501253.2:p.Ser72Asn | |
| ENST00000673739.1:c.83G>A | ENSP00000501110.1:p.Ser28Asn | |
| ENST00000673882.1:c.83G>A | ENSP00000501253.1:p.Ser28Asn | |
| ENST00000233242.5:c.215G>A MANE Select | ENSP00000233242.1:p.Ser72Asn | |
| ENST00000399256.4:c.215G>A | ENSP00000382200.4:p.Ser72Asn | |
| ENST00000616098.4:c.215G>A | ENSP00000477990.1:p.Ser72Asn | |
| NM_000384.2:c.215G>A | NP_000375.2:p.Ser72Asn | |
| XM_011532809.1:c.215G>A | XP_011531111.1:p.Ser72Asn | |
| NM_000384.3:c.215G>A MANE Select | NP_000375.3:p.Ser72Asn |