Linked Data
dbSNP Id:
rs11835157
gnomAD v2:
12-96634205-A-G
gnomAD v3:
12-96240427-A-G
gnomAD v4:
12-96240427-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.96240427A>G , CM000674.2:g.96240427A>G | GRCh38 |
| NC_000012.11:g.96634205A>G , CM000674.1:g.96634205A>G | GRCh37 |
| NC_000012.10:g.95158336A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228741.8:c.208-6513A>G MANE Select | ENSP00000228741.3:n.208-6513A>G | |
| ENST00000228741.7:c.208-6513A>G | ENSP00000228741.3:n.208-6513A>G | |
| ENST00000547860.1:c.208-6513A>G | ENSP00000447857.1:n.208-6513A>G | |
| ENST00000552142.5:c.207+16654A>G | ENSP00000449430.1:n.207+16654A>G | |
| NM_005230.3:c.208-6513A>G | NP_005221.2:n.208-6513A>G | |
| XM_006719275.2:c.208-6513A>G | XP_006719338.1:n.208-6513A>G | |
| XM_006719275.3:c.208-6513A>G | XP_006719338.1:n.208-6513A>G | |
| NM_005230.4:c.208-6513A>G MANE Select | NP_005221.2:n.208-6513A>G |