Linked Data
dbSNP Id:
rs112443954
gnomAD v2:
6-13574491-G-C
gnomAD v3:
6-13574259-G-C
gnomAD v4:
6-13574259-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.13574259G>C , CM000668.2:g.13574259G>C | GRCh38 |
| NC_000006.11:g.13574491G>C , CM000668.1:g.13574491G>C | GRCh37 |
| NC_000006.10:g.13682470G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397350.7:c.-304G>C | ENSP00000380509.3:n.-304G>C | |
| ENST00000680432.1:c.-242G>C | ENSP00000505496.1:n.-242G>C | |
| ENST00000681012.1:c.-242G>C | ENSP00000505415.1:n.-242G>C | |
| XM_017010622.2:c.-500G>C | XP_016866111.1:n.-500G>C | |
| XR_926497.3:n.199C>G |