Linked Data
dbSNP Id:
rs756665707
ExAC:
6:24658778 A / C
gnomAD v2:
6-24658778-A-C
gnomAD v4:
6-24658550-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658550A>C , CM000668.2:g.24658550A>C | GRCh38 |
| NC_000006.11:g.24658778A>C , CM000668.1:g.24658778A>C | GRCh37 |
| NC_000006.10:g.24766757A>C | NCBI36 |
| NG_052787.1:g.13338T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.425+11T>G MANE Select | ENSP00000367440.4:n.425+11T>G | |
| ENST00000341060.3:c.251+11T>G | ENSP00000345345.3:n.251+11T>G | |
| ENST00000378198.8:c.425+11T>G | ENSP00000367440.4:n.425+11T>G | |
| ENST00000478285.1:n.612+11T>G | ||
| ENST00000478507.1:n.320-5397T>G | ||
| NM_016614.2:c.425+11T>G | NP_057698.2:n.425+11T>G | |
| XR_926244.1:n.552+11T>G | ||
| NM_016614.3:c.425+11T>G MANE Select | NP_057698.2:n.425+11T>G |