ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367289A>G , CM000685.2:g.38367289A>G | GRCh38 |
| NC_000023.10:g.38226542A>G , CM000685.1:g.38226542A>G | GRCh37 |
| NC_000023.9:g.38111486A>G | NCBI36 |
| NG_008471.1:g.19807A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.78-2A>G MANE Select | ENSP00000039007.4:n.78-2A>G | |
| ENST00000643344.1:c.78-2A>G | ENSP00000496606.1:n.78-2A>G | |
| ENST00000039007.4:c.78-2A>G | ENSP00000039007.4:n.78-2A>G | |
| ENST00000465127.1:c.172-298832A>G | ENSP00000417050.1:n.172-298832A>G | |
| ENST00000488812.1:n.170-2A>G | ||
| NM_000531.5:c.78-2A>G | NP_000522.3:n.78-2A>G | |
| XM_017029556.1:c.78-2A>G | XP_016885045.1:n.78-2A>G | |
| NM_000531.6:c.78-2A>G MANE Select | NP_000522.3:n.78-2A>G |