Linked Data
dbSNP Id:
rs1335065568
gnomAD v2:
7-33136279-T-C
gnomAD v3:
7-33096667-T-C
gnomAD v4:
7-33096667-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33096667T>C , CM000669.2:g.33096667T>C | GRCh38 |
| NC_000007.13:g.33136279T>C , CM000669.1:g.33136279T>C | GRCh37 |
| NC_000007.12:g.33102804T>C | NCBI36 |
| NG_012968.1:g.17724A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474370.2:n.2379-113A>G | ||
| ENST00000492391.2:n.1530-113A>G | ||
| ENST00000682645.1:n.3477-113A>G | ||
| ENST00000683432.1:c.*581-113A>G | ENSP00000508174.1:n.*581-113A>G | |
| ENST00000684207.1:c.406-113A>G | ENSP00000506942.1:n.406-113A>G | |
| ENST00000297157.8:c.406-113A>G MANE Select | ENSP00000297157.3:n.406-113A>G | |
| ENST00000297157.7:c.406-113A>G | ENSP00000297157.3:n.406-113A>G | |
| ENST00000448915.1:c.304-113A>G | ENSP00000411577.1:n.304-113A>G | |
| NM_203288.1:c.406-113A>G | NP_976033.1:n.406-113A>G | |
| XM_011515468.1:c.304-113A>G | XP_011513770.1:n.304-113A>G | |
| XM_011515468.3:c.304-113A>G | XP_011513770.1:n.304-113A>G | |
| NM_203288.2:c.406-113A>G MANE Select | NP_976033.1:n.406-113A>G |