Linked Data
ClinVar Variation Id:
334153
dbSNP Id:
rs200768300
ExAC:
2:21238143 G / A
gnomAD v2:
2-21238143-G-A
gnomAD v3:
2-21015271-G-A
gnomAD v4:
2-21015271-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015271G>A , CM000664.2:g.21015271G>A | GRCh38 |
| NC_000002.11:g.21238143G>A , CM000664.1:g.21238143G>A | GRCh37 |
| NC_000002.10:g.21091648G>A | NCBI36 |
| NG_011793.1:g.33803C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2815-11C>T | ENSP00000501110.2:n.*2815-11C>T | |
| ENST00000673882.2:c.*2604-11C>T | ENSP00000501253.2:n.*2604-11C>T | |
| ENST00000673739.1:c.3223-11C>T | ENSP00000501110.1:n.3223-11C>T | |
| ENST00000673882.1:c.3012-11C>T | ENSP00000501253.1:n.3012-11C>T | |
| ENST00000233242.5:c.3509-11C>T MANE Select | ENSP00000233242.1:n.3509-11C>T | |
| ENST00000616098.4:c.3509-11C>T | ENSP00000477990.1:n.3509-11C>T | |
| NM_000384.2:c.3509-11C>T | NP_000375.2:n.3509-11C>T | |
| XM_011532809.1:c.3509-11C>T | XP_011531111.1:n.3509-11C>T | |
| NM_000384.3:c.3509-11C>T MANE Select | NP_000375.3:n.3509-11C>T |