Linked Data
ClinVar Variation Id:
2926454
ClinVar RCV Id:
RCV003788692
dbSNP Id:
rs765952330
ExAC:
2:21238386 C / T
gnomAD v2:
2-21238386-C-T
gnomAD v4:
2-21015514-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015514C>T , CM000664.2:g.21015514C>T | GRCh38 |
| NC_000002.11:g.21238386C>T , CM000664.1:g.21238386C>T | GRCh37 |
| NC_000002.10:g.21091891C>T | NCBI36 |
| NG_011793.1:g.33560G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2670G>A | ENSP00000501110.2:n.*2670G>A | |
| ENST00000673882.2:c.*2459G>A | ENSP00000501253.2:n.*2459G>A | |
| ENST00000673739.1:c.3078G>A | ENSP00000501110.1:n.3078G>A | |
| ENST00000673882.1:c.2867G>A | ENSP00000501253.1:n.2867G>A | |
| ENST00000233242.5:c.3364G>A MANE Select | ENSP00000233242.1:p.Gly1122Ser | |
| ENST00000616098.4:c.3364G>A | ENSP00000477990.1:p.Gly1122Ser | |
| NM_000384.2:c.3364G>A | NP_000375.2:p.Gly1122Ser | |
| XM_011532809.1:c.3364G>A | XP_011531111.1:p.Gly1122Ser | |
| NM_000384.3:c.3364G>A MANE Select | NP_000375.3:p.Gly1122Ser |