Linked Data
dbSNP Id:
rs2143340
gnomAD v2:
6-24659071-A-G
gnomAD v3:
6-24658843-A-G
gnomAD v4:
6-24658843-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658843A>G , CM000668.2:g.24658843A>G | GRCh38 |
| NC_000006.11:g.24659071A>G , CM000668.1:g.24659071A>G | GRCh37 |
| NC_000006.10:g.24767050A>G | NCBI36 |
| NG_052787.1:g.13045T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378198.9:c.252-109T>C MANE Select | ENSP00000367440.4:n.252-109T>C | |
| ENST00000341060.3:c.78-109T>C | ENSP00000345345.3:n.78-109T>C | |
| ENST00000378198.8:c.252-109T>C | ENSP00000367440.4:n.252-109T>C | |
| ENST00000478285.1:n.330T>C | ||
| ENST00000478507.1:n.320-5690T>C | ||
| NM_016614.2:c.252-109T>C | NP_057698.2:n.252-109T>C | |
| XR_926244.1:n.379-109T>C | ||
| NM_016614.3:c.252-109T>C MANE Select | NP_057698.2:n.252-109T>C |