Linked Data
dbSNP Id:
rs41550819
gnomAD v2:
6-31238716-A-G
gnomAD v3:
6-31270939-A-G
gnomAD v4:
6-31270939-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270939A>G , CM000668.2:g.31270939A>G | GRCh38 |
| NC_000006.11:g.31238716A>G , CM000668.1:g.31238716A>G | GRCh37 |
| NC_000006.10:g.31346695A>G | NCBI36 |
| NG_029422.2:g.6193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.619+134T>C MANE Select | ENSP00000365402.5:n.619+134T>C | |
| ENST00000376228.9:c.619+134T>C | ENSP00000365402.5:n.619+134T>C | |
| ENST00000376237.8:c.*206+134T>C | ENSP00000365412.4:n.*206+134T>C | |
| ENST00000383329.7:c.619+134T>C | ENSP00000372819.3:n.619+134T>C | |
| ENST00000415537.1:c.617+134T>C | ||
| ENST00000487245.5:n.978+134T>C | ||
| ENST00000495835.1:n.808+134T>C | ||
| NM_002117.5:c.619+134T>C | NP_002108.4:n.619+134T>C | |
| NM_002117.6:c.619+134T>C MANE Select | NP_002108.4:n.619+134T>C |