Linked Data
dbSNP Id:
rs673548
gnomAD v2:
2-21237544-G-A
gnomAD v3:
2-21014672-G-A
gnomAD v4:
2-21014672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21014672G>A , CM000664.2:g.21014672G>A | GRCh38 |
| NC_000002.11:g.21237544G>A , CM000664.1:g.21237544G>A | GRCh37 |
| NC_000002.10:g.21091049G>A | NCBI36 |
| NG_011793.1:g.34402C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673739.2:c.*3003-79C>T | ENSP00000501110.2:n.*3003-79C>T | |
| ENST00000673882.2:c.*2792-79C>T | ENSP00000501253.2:n.*2792-79C>T | |
| ENST00000673739.1:c.3411-79C>T | ENSP00000501110.1:n.3411-79C>T | |
| ENST00000673882.1:c.3200-79C>T | ENSP00000501253.1:n.3200-79C>T | |
| ENST00000233242.5:c.3697-79C>T MANE Select | ENSP00000233242.1:n.3697-79C>T | |
| ENST00000616098.4:c.3697-79C>T | ENSP00000477990.1:n.3697-79C>T | |
| NM_000384.2:c.3697-79C>T | NP_000375.2:n.3697-79C>T | |
| XM_011532809.1:c.3697-79C>T | XP_011531111.1:n.3697-79C>T | |
| NM_000384.3:c.3697-79C>T MANE Select | NP_000375.3:n.3697-79C>T |