Linked Data
dbSNP Id:
rs12676965
gnomAD v2:
8-37681426-T-C
gnomAD v3:
8-37823908-T-C
gnomAD v4:
8-37823908-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37823908T>C , CM000670.2:g.37823908T>C | GRCh38 |
| NC_000008.10:g.37681426T>C , CM000670.1:g.37681426T>C | GRCh37 |
| NC_000008.9:g.37800584T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412232.3:c.339-4980T>C MANE Select | ENSP00000406367.2:n.339-4980T>C | |
| ENST00000315215.11:c.339-4980T>C | ENSP00000323508.7:n.339-4980T>C | |
| ENST00000412232.2:c.339-4980T>C | ENSP00000406367.2:n.339-4980T>C | |
| ENST00000428068.5:c.213-4980T>C | ENSP00000400860.1:n.213-4980T>C | |
| NM_032777.9:c.339-4980T>C | NP_116166.9:n.339-4980T>C | |
| XM_005273471.3:c.339-4980T>C | XP_005273528.1:n.339-4980T>C | |
| XM_011544481.1:c.339-4980T>C | XP_011542783.1:n.339-4980T>C | |
| XM_011544482.1:c.267-4980T>C | XP_011542784.1:n.267-4980T>C | |
| XM_011544483.1:c.339-4980T>C | XP_011542785.1:n.339-4980T>C | |
| XM_011544481.2:c.339-4980T>C | XP_011542783.1:n.339-4980T>C | |
| XM_011544482.2:c.267-4980T>C | XP_011542784.1:n.267-4980T>C | |
| XM_011544483.2:c.339-4980T>C | XP_011542785.1:n.339-4980T>C | |
| NM_032777.10:c.339-4980T>C MANE Select | NP_116166.9:n.339-4980T>C |