Linked Data
dbSNP Id:
rs921341367
gnomAD v2:
11-72433002-G-A
gnomAD v3:
11-72721957-G-A
gnomAD v4:
11-72721957-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72721957G>A , CM000673.2:g.72721957G>A | GRCh38 |
| NC_000011.9:g.72433002G>A , CM000673.1:g.72433002G>A | GRCh37 |
| NC_000011.8:g.72110650G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393609.8:c.509+4663C>T MANE Select | ENSP00000377233.3:n.509+4663C>T | |
| ENST00000334211.12:c.-334C>T | ENSP00000335506.8:n.-334C>T | |
| ENST00000359373.9:c.509+4663C>T | ENSP00000352332.5:n.509+4663C>T | |
| ENST00000393609.7:c.509+4663C>T | ENSP00000377233.3:n.509+4663C>T | |
| ENST00000426523.5:c.-334C>T | ENSP00000392264.1:n.-334C>T | |
| ENST00000429686.5:c.-334C>T | ENSP00000403127.1:n.-334C>T | |
| ENST00000465814.5:n.132C>T | ||
| NM_001040118.2:c.509+4663C>T | NP_001035207.1:n.509+4663C>T | |
| NM_001135190.1:c.-334C>T | NP_001128662.1:n.-334C>T | |
| NM_015242.4:c.-334C>T | NP_056057.2:n.-334C>T | |
| NM_001369489.1:c.-334C>T | NP_001356418.1:n.-334C>T | |
| NR_161388.1:n.384C>T | ||
| NM_001040118.3:c.509+4663C>T MANE Select | NP_001035207.1:n.509+4663C>T | |
| NM_001135190.2:c.-334C>T | NP_001128662.1:n.-334C>T | |
| NM_015242.5:c.-334C>T | NP_056057.2:n.-334C>T |