Linked Data
dbSNP Id:
rs4947332
gnomAD v2:
6-31834197-C-T
gnomAD v3:
6-31866420-C-T
gnomAD v4:
6-31866420-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31866420C>T , CM000668.2:g.31866420C>T | GRCh38 |
| NC_000006.11:g.31834197C>T , CM000668.1:g.31834197C>T | GRCh37 |
| NC_000006.10:g.31942176C>T | NCBI36 |
| NG_008201.1:g.1513G>A | |
| NG_023058.1:g.17627G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229729.11:c.1234-294G>A MANE Select | ENSP00000229729.6:n.1234-294G>A | |
| ENST00000229729.10:c.1234-294G>A | ENSP00000229729.6:n.1234-294G>A | |
| ENST00000375562.8:c.1108-294G>A | ENSP00000364712.4:n.1108-294G>A | |
| ENST00000414427.1:c.885-294G>A | ||
| ENST00000479777.1:n.588-294G>A | ||
| ENST00000544672.5:c.1006-294G>A | ENSP00000444109.1:n.1006-294G>A | |
| NM_001178044.1:c.1108-294G>A | NP_001171515.1:n.1108-294G>A | |
| NM_001178045.1:c.1006-294G>A | NP_001171516.1:n.1006-294G>A | |
| NM_025257.2:c.1234-294G>A | NP_079533.2:n.1234-294G>A | |
| NM_025257.3:c.1234-294G>A MANE Select | NP_079533.2:n.1234-294G>A | |
| NM_001178044.2:c.1108-294G>A | NP_001171515.1:n.1108-294G>A | |
| NM_001178045.2:c.1006-294G>A | NP_001171516.1:n.1006-294G>A |