Linked Data
dbSNP Id:
rs746177575
gnomAD v2:
11-72433141-C-T
gnomAD v3:
11-72722096-C-T
gnomAD v4:
11-72722096-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72722096C>T , CM000673.2:g.72722096C>T | GRCh38 |
| NC_000011.9:g.72433141C>T , CM000673.1:g.72433141C>T | GRCh37 |
| NC_000011.8:g.72110789C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393609.8:c.509+4524G>A MANE Select | ENSP00000377233.3:n.509+4524G>A | |
| ENST00000334211.12:c.-473G>A | ENSP00000335506.8:n.-473G>A | |
| ENST00000359373.9:c.509+4524G>A | ENSP00000352332.5:n.509+4524G>A | |
| ENST00000393609.7:c.509+4524G>A | ENSP00000377233.3:n.509+4524G>A | |
| NM_001040118.2:c.509+4524G>A | NP_001035207.1:n.509+4524G>A | |
| NM_001135190.1:c.-473G>A | NP_001128662.1:n.-473G>A | |
| NM_015242.4:c.-473G>A | NP_056057.2:n.-473G>A | |
| NM_001369489.1:c.-473G>A | NP_001356418.1:n.-473G>A | |
| NR_161388.1:n.245G>A | ||
| NM_001040118.3:c.509+4524G>A MANE Select | NP_001035207.1:n.509+4524G>A | |
| NM_001135190.2:c.-473G>A | NP_001128662.1:n.-473G>A | |
| NM_015242.5:c.-473G>A | NP_056057.2:n.-473G>A |