Linked Data
dbSNP Id:
rs45469691
ExAC:
17:37821927 G / C
gnomAD v2:
17-37821927-G-C
gnomAD v3:
17-39665674-G-C
gnomAD v4:
17-39665674-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665674G>C , CM000679.2:g.39665674G>C | GRCh38 |
| NC_000017.10:g.37821927G>C , CM000679.1:g.37821927G>C | GRCh37 |
| NC_000017.9:g.35075453G>C | NCBI36 |
| NG_008892.1:g.5329G>C , LRG_210:g.5329G>C | |
| NG_042278.1:g.2694G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.111-42G>C MANE Select | ENSP00000312624.2:n.111-42G>C | |
| ENST00000309889.2:c.111-42G>C | ENSP00000312624.2:n.111-42G>C | |
| ENST00000578283.1:c.111-42G>C | ENSP00000462787.1:n.111-42G>C | |
| NM_003673.3:c.111-42G>C , LRG_210t1:c.111-42G>C | NP_003664.1:n.111-42G>C | |
| NM_003673.4:c.111-42G>C MANE Select | NP_003664.1:n.111-42G>C |