Linked Data
dbSNP Id:
rs201010815
ExAC:
6:24658749 A / G
gnomAD v2:
6-24658749-A-G
gnomAD v3:
6-24658521-A-G
gnomAD v4:
6-24658521-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658521A>G , CM000668.2:g.24658521A>G | GRCh38 |
| NC_000006.11:g.24658749A>G , CM000668.1:g.24658749A>G | GRCh37 |
| NC_000006.10:g.24766728A>G | NCBI36 |
| NG_052787.1:g.13367T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378198.9:c.425+40T>C MANE Select | ENSP00000367440.4:n.425+40T>C | |
| ENST00000341060.3:c.251+40T>C | ENSP00000345345.3:n.251+40T>C | |
| ENST00000378198.8:c.425+40T>C | ENSP00000367440.4:n.425+40T>C | |
| ENST00000478285.1:n.612+40T>C | ||
| ENST00000478507.1:n.320-5368T>C | ||
| NM_016614.2:c.425+40T>C | NP_057698.2:n.425+40T>C | |
| XR_926244.1:n.552+40T>C | ||
| NM_016614.3:c.425+40T>C MANE Select | NP_057698.2:n.425+40T>C |