Linked Data
dbSNP Id:
rs2353292
gnomAD v2:
2-158158514-C-T
gnomAD v3:
2-157302002-C-T
gnomAD v4:
2-157302002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.157302002C>T , CM000664.2:g.157302002C>T | GRCh38 |
| NC_000002.11:g.158158514C>T , CM000664.1:g.158158514C>T | GRCh37 |
| NC_000002.10:g.157866760C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259056.5:c.2439+1003C>T MANE Select | ENSP00000259056.4:n.2439+1003C>T | |
| ENST00000259056.4:c.2439+1003C>T | ENSP00000259056.4:n.2439+1003C>T | |
| ENST00000461704.1:n.178-126C>T | ||
| ENST00000463418.5:n.198-126C>T | ||
| NM_014568.1:c.2439+1003C>T | NP_055383.1:n.2439+1003C>T | |
| NM_001329868.1:c.1029+1003C>T | NP_001316797.1:n.1029+1003C>T | |
| NM_014568.2:c.2439+1003C>T | NP_055383.1:n.2439+1003C>T | |
| XM_017003237.2:c.2439+1003C>T | XP_016858726.1:n.2439+1003C>T | |
| NM_014568.3:c.2439+1003C>T MANE Select | NP_055383.1:n.2439+1003C>T | |
| NM_001329868.2:c.1029+1003C>T | NP_001316797.1:n.1029+1003C>T |