Linked Data
dbSNP Id:
rs374828190
gnomAD v2:
12-103234378-T-C
gnomAD v3:
12-102840600-T-C
gnomAD v4:
12-102840600-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840600T>C , CM000674.2:g.102840600T>C | GRCh38 |
| NC_000012.11:g.103234378T>C , CM000674.1:g.103234378T>C | GRCh37 |
| NC_000012.10:g.101758508T>C | NCBI36 |
| NG_008690.1:g.82003A>G | |
| NG_008690.2:g.122811A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1200-85A>G MANE Select | ENSP00000448059.1:n.1200-85A>G | |
| ENST00000307000.7:c.1185-85A>G | ENSP00000303500.2:n.1185-85A>G | |
| ENST00000549247.6:n.959-85A>G | ||
| ENST00000551114.2:n.862-85A>G | ||
| ENST00000553106.5:c.1200-85A>G | ENSP00000448059.1:n.1200-85A>G | |
| ENST00000635477.1:c.304-85A>G | ||
| ENST00000635528.1:n.715-85A>G | ||
| NM_000277.1:c.1200-85A>G | NP_000268.1:n.1200-85A>G | |
| XM_011538422.1:c.1143-85A>G | XP_011536724.1:n.1143-85A>G | |
| NM_000277.2:c.1200-85A>G | NP_000268.1:n.1200-85A>G | |
| NM_001354304.1:c.1200-85A>G | NP_001341233.1:n.1200-85A>G | |
| NM_000277.3:c.1200-85A>G MANE Select | NP_000268.1:n.1200-85A>G | |
| NM_001354304.2:c.1200-85A>G | NP_001341233.1:n.1200-85A>G |