ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38411860A>T , CM000685.2:g.38411860A>T | GRCh38 |
| NC_000023.10:g.38271113A>T , CM000685.1:g.38271113A>T | GRCh37 |
| NC_000023.9:g.38156057A>T | NCBI36 |
| NG_008471.1:g.64378A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.868-2A>T MANE Select | ENSP00000039007.4:n.868-2A>T | |
| ENST00000643344.1:c.*618-2A>T | ENSP00000496606.1:n.*618-2A>T | |
| ENST00000039007.4:c.868-2A>T | ENSP00000039007.4:n.868-2A>T | |
| ENST00000465127.1:c.172-254261A>T | ENSP00000417050.1:n.172-254261A>T | |
| NM_000531.5:c.868-2A>T | NP_000522.3:n.868-2A>T | |
| XM_017029556.1:c.935A>T | XP_016885045.1:p.Ter312Leu | |
| NM_000531.6:c.868-2A>T MANE Select | NP_000522.3:n.868-2A>T |