Linked Data
dbSNP Id:
rs389884
gnomAD v2:
6-31940897-A-G
gnomAD v3:
6-31973120-A-G
gnomAD v4:
6-31973120-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31973120A>G , CM000668.2:g.31973120A>G | GRCh38 |
| NC_000006.11:g.31940897A>G , CM000668.1:g.31940897A>G | GRCh37 |
| NC_000006.10:g.32048876A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685781.1:c.237+363A>G MANE Select | ENSP00000509445.1:n.237+363A>G | |
| ENST00000375331.7:c.237+363A>G | ENSP00000364480.3:n.237+363A>G | |
| ENST00000375333.3:c.237+363A>G | ENSP00000364482.3:n.237+363A>G | |
| ENST00000483801.6:c.100+609A>G | ENSP00000418866.2:n.100+609A>G | |
| ENST00000519179.6:c.100+609A>G | ENSP00000454870.2:n.100+609A>G | |
| ENST00000375331.6:c.567+363A>G | ENSP00000364480.2:n.567+363A>G | |
| ENST00000375333.2:c.567+363A>G | ENSP00000364482.2:n.567+363A>G | |
| ENST00000463823.5:n.138+609A>G | ||
| ENST00000466132.5:n.964+363A>G | ||
| ENST00000466336.5:n.252+363A>G | ||
| ENST00000469907.1:n.338+201A>G | ||
| ENST00000471028.1:n.223+363A>G | ||
| ENST00000473983.5:n.309+363A>G | ||
| ENST00000478486.5:n.459+201A>G | ||
| ENST00000479644.1:n.1096A>G | ||
| ENST00000483801.5:c.131+609A>G | ||
| ENST00000484540.5:n.180+363A>G | ||
| ENST00000491861.5:n.203+363A>G | ||
| ENST00000492583.5:n.750+363A>G | ||
| ENST00000519179.5:c.131+609A>G | ||
| NM_004197.1:c.567+363A>G | NP_004188.1:n.567+363A>G | |
| NM_032454.1:c.567+363A>G | NP_115830.1:n.567+363A>G | |
| NR_026717.1:n.880+363A>G | ||
| NM_004197.2:c.237+363A>G MANE Select | NP_004188.2:n.237+363A>G |