Linked Data
dbSNP Id:
rs11723261
gnomAD v2:
4-282499-A-G
gnomAD v3:
4-288710-A-G
gnomAD v4:
4-288710-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.288710A>G , CM000666.2:g.288710A>G | GRCh38 |
| NC_000004.11:g.282499A>G , CM000666.1:g.282499A>G | GRCh37 |
| NC_000004.10:g.272499A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000419098.6:c.226+6728T>C MANE Select | ENSP00000415774.1:n.226+6728T>C | |
| ENST00000419098.5:c.226+6728T>C | ENSP00000415774.1:n.226+6728T>C | |
| ENST00000619749.1:c.223+6728T>C | ENSP00000478210.1:n.223+6728T>C | |
| NM_001137608.1:c.226+6728T>C | NP_001131080.1:n.226+6728T>C | |
| NM_001137608.2:c.226+6728T>C | NP_001131080.1:n.226+6728T>C | |
| NM_001137608.3:c.226+6728T>C MANE Select | NP_001131080.1:n.226+6728T>C |