Linked Data
dbSNP Id:
rs1217629515
gnomAD v2:
1-200007341-A-G
gnomAD v3:
1-200038213-A-G
gnomAD v4:
1-200038213-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200038213A>G , CM000663.2:g.200038213A>G | GRCh38 |
| NC_000001.10:g.200007341A>G , CM000663.1:g.200007341A>G | GRCh37 |
| NC_000001.9:g.198273964A>G | NCBI36 |
| NG_050913.1:g.15612A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367362.8:c.65-1445A>G MANE Select | ENSP00000356331.3:n.65-1445A>G | |
| ENST00000236914.7:c.65-5561A>G | ENSP00000236914.3:n.65-5561A>G | |
| ENST00000367362.7:c.65-1445A>G | ENSP00000356331.3:n.65-1445A>G | |
| ENST00000447034.1:c.30-488A>G | ||
| ENST00000474307.1:c.*419-5561A>G | ENSP00000436776.1:n.*419-5561A>G | |
| NM_003822.4:c.65-5561A>G | NP_003813.1:n.65-5561A>G | |
| NM_205860.2:c.65-1445A>G | NP_995582.1:n.65-1445A>G | |
| XM_011509380.1:c.-56-1445A>G | XP_011507682.1:n.-56-1445A>G | |
| XM_011509382.1:c.-14-5561A>G | XP_011507684.1:n.-14-5561A>G | |
| XM_011509381.3:c.-616A>G | XP_011507683.1:n.-616A>G | |
| NM_205860.3:c.65-1445A>G MANE Select | NP_995582.1:n.65-1445A>G | |
| NM_003822.5:c.65-5561A>G | NP_003813.1:n.65-5561A>G |