ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151404910T>G , CM000685.2:g.151404910T>G | GRCh38 |
| NC_000023.10:g.150573382T>G , CM000685.1:g.150573382T>G | GRCh37 |
| NC_000023.9:g.150324040T>G | NCBI36 |
| NG_016761.1:g.12726T>G , LRG_860:g.12726T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330374.7:c.164-6T>G MANE Select | ENSP00000333255.6:n.164-6T>G | |
| ENST00000330374.6:c.164-6T>G | ENSP00000333255.6:n.164-6T>G | |
| ENST00000370361.5:c.329-6T>G | ENSP00000359386.1:n.329-6T>G | |
| ENST00000477649.1:n.244-6T>G | ||
| NM_001017980.3:c.164-6T>G , LRG_860t1:c.164-6T>G | NP_001017980.1:n.164-6T>G | |
| XM_011531125.1:c.329-6T>G | XP_011529427.1:n.329-6T>G | |
| NM_001363810.1:c.329-6T>G | NP_001350739.1:n.329-6T>G | |
| NM_001017980.4:c.164-6T>G MANE Select | NP_001017980.1:n.164-6T>G |