Linked Data
dbSNP Id:
rs900076843
gnomAD v4:
6-112069682-T-C
MyVariant Identifiers:
chr6:g.112069682T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112069682T>C , CM000668.2:g.112069682T>C | GRCh38 |
| NC_000006.11:g.112390885T>C , CM000668.1:g.112390885T>C | GRCh37 |
| NC_000006.10:g.112497578T>C | NCBI36 |
| NG_011748.1:g.20608T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368666.7:c.*62T>C MANE Select | ENSP00000357655.4:n.*62T>C | |
| ENST00000361714.5:c.*62T>C | ENSP00000354734.2:n.*62T>C | |
| ENST00000368666.6:c.*62T>C | ENSP00000357655.3:n.*62T>C | |
| ENST00000454589.5:c.*531T>C | ENSP00000395928.1:n.*531T>C | |
| ENST00000604763.5:c.*62T>C | ENSP00000473777.1:n.*62T>C | |
| ENST00000620524.3:n.1058T>C | ||
| NM_003880.3:c.*62T>C | NP_003871.1:n.*62T>C | |
| NM_198239.1:c.*62T>C | NP_937882.1:n.*62T>C | |
| NR_125353.1:n.1381T>C | ||
| NR_125354.1:n.1301T>C | ||
| XM_011536220.1:c.*62T>C | XP_011534522.1:n.*62T>C | |
| XM_011536221.1:c.*531T>C | XP_011534523.1:n.*531T>C | |
| XM_011536223.1:c.*62T>C | XP_011534525.1:n.*62T>C | |
| XM_011536223.3:c.*62T>C | XP_011534525.1:n.*62T>C | |
| XR_001743705.1:n.1729T>C | ||
| NM_003880.4:c.*62T>C | NP_003871.1:n.*62T>C | |
| NM_198239.2:c.*62T>C MANE Select | NP_937882.2:n.*62T>C | |
| NR_125353.2:n.1445T>C | ||
| NR_125354.3:n.1272T>C |