Linked Data
dbSNP Id:
rs17036023
gnomAD v2:
1-117129711-A-G
gnomAD v3:
1-116587089-A-G
gnomAD v4:
1-116587089-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.116587089A>G , CM000663.2:g.116587089A>G | GRCh38 |
| NC_000001.10:g.117129711A>G , CM000663.1:g.117129711A>G | GRCh37 |
| NC_000001.9:g.116931234A>G | NCBI36 |
| NG_050917.1:g.85667T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369486.8:c.2440+1605T>C MANE Select | ENSP00000358498.4:n.2440+1605T>C | |
| ENST00000318837.6:c.2500+1605T>C | ENSP00000321184.6:n.2500+1605T>C | |
| ENST00000369483.5:c.2500+1605T>C | ENSP00000358495.1:n.2500+1605T>C | |
| ENST00000369486.7:c.2440+1605T>C | ENSP00000358498.3:n.2440+1605T>C | |
| NM_001007237.2:c.2440+1605T>C | NP_001007238.1:n.2440+1605T>C | |
| NM_001542.3:c.2500+1605T>C | NP_001533.2:n.2500+1605T>C | |
| XM_005270793.2:c.2500+1605T>C | XP_005270850.1:n.2500+1605T>C | |
| XM_005270794.3:c.2455+1605T>C | XP_005270851.1:n.2455+1605T>C | |
| XM_006710593.2:c.2515+1605T>C | XP_006710656.1:n.2515+1605T>C | |
| XM_011541315.1:c.2500+1605T>C | XP_011539617.1:n.2500+1605T>C | |
| XM_011541316.1:c.829+1605T>C | XP_011539618.1:n.829+1605T>C | |
| NM_001542.4:c.2500+1605T>C | NP_001533.2:n.2500+1605T>C | |
| XM_005270794.4:c.2455+1605T>C | XP_005270851.1:n.2455+1605T>C | |
| XM_006710593.3:c.2515+1605T>C | XP_006710656.1:n.2515+1605T>C | |
| XM_011541316.2:c.829+1605T>C | XP_011539618.1:n.829+1605T>C | |
| NM_001007237.3:c.2440+1605T>C MANE Select | NP_001007238.1:n.2440+1605T>C |