Linked Data
dbSNP Id:
rs7383157
gnomAD v2:
6-31239306-T-G
gnomAD v3:
6-31271529-T-G
gnomAD v4:
6-31271529-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271529T>G , CM000668.2:g.31271529T>G | GRCh38 |
| NC_000006.11:g.31239306T>G , CM000668.1:g.31239306T>G | GRCh37 |
| NC_000006.10:g.31347285T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.343+70A>C MANE Select | ENSP00000365402.5:n.343+70A>C | |
| ENST00000376228.9:c.343+70A>C | ENSP00000365402.5:n.343+70A>C | |
| ENST00000376237.8:c.343+70A>C | ENSP00000365412.4:n.343+70A>C | |
| ENST00000383329.7:c.343+70A>C | ENSP00000372819.3:n.343+70A>C | |
| ENST00000415537.1:c.341+70A>C | ||
| ENST00000484378.1:n.432A>C | ||
| ENST00000487245.5:n.522A>C | ||
| ENST00000495835.1:n.532+70A>C | ||
| NM_002117.5:c.343+70A>C | NP_002108.4:n.343+70A>C | |
| NM_002117.6:c.343+70A>C MANE Select | NP_002108.4:n.343+70A>C |