ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151403604A>T , CM000685.2:g.151403604A>T | GRCh38 |
| NC_000023.10:g.150572076A>T , CM000685.1:g.150572076A>T | GRCh37 |
| NC_000023.9:g.150322734A>T | NCBI36 |
| NG_016761.1:g.11420A>T , LRG_860:g.11420A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330374.7:c.54-27A>T MANE Select | ENSP00000333255.6:n.54-27A>T | |
| ENST00000330374.6:c.54-27A>T | ENSP00000333255.6:n.54-27A>T | |
| ENST00000370361.5:c.219-27A>T | ENSP00000359386.1:n.219-27A>T | |
| ENST00000477649.1:n.134-27A>T | ||
| NM_001017980.3:c.54-27A>T , LRG_860t1:c.54-27A>T | NP_001017980.1:n.54-27A>T | |
| XM_011531125.1:c.219-27A>T | XP_011529427.1:n.219-27A>T | |
| NM_001363810.1:c.219-27A>T | NP_001350739.1:n.219-27A>T | |
| NM_001017980.4:c.54-27A>T MANE Select | NP_001017980.1:n.54-27A>T |