Linked Data
dbSNP Id:
rs1411387184
gnomAD v2:
6-35791654-T-G
gnomAD v3:
6-35823877-T-G
gnomAD v4:
6-35823877-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823877T>G , CM000668.2:g.35823877T>G | GRCh38 |
| NC_000006.11:g.35791654T>G , CM000668.1:g.35791654T>G | GRCh37 |
| NC_000006.10:g.35899632T>G | NCBI36 |
| NG_012184.1:g.23584T>G | |
| NG_012184.2:g.23584T>G | |
| NG_012184.3:g.31672T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*912T>G MANE Select | ENSP00000353346.1:n.*912T>G | |
| ENST00000496656.2:n.578+4057T>G | ||
| ENST00000651132.1:c.*912T>G | ENSP00000498322.1:n.*912T>G | |
| ENST00000651676.1:c.*16+4414T>G | ENSP00000498699.1:n.*16+4414T>G | |
| ENST00000652718.1:c.508+4414T>G | ENSP00000498866.1:n.508+4414T>G | |
| ENST00000360215.2:c.*912T>G | ENSP00000353346.1:n.*912T>G | |
| ENST00000496656.1:n.812+4057T>G | ||
| NM_182548.3:c.*912T>G | NP_872354.1:n.*912T>G | |
| NM_182548.4:c.*912T>G MANE Select | NP_872354.1:n.*912T>G |