Linked Data
dbSNP Id:
rs780856926
ExAC:
7:33136123 C / T
gnomAD v2:
7-33136123-C-T
gnomAD v3:
7-33096511-C-T
gnomAD v4:
7-33096511-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33096511C>T , CM000669.2:g.33096511C>T | GRCh38 |
| NC_000007.13:g.33136123C>T , CM000669.1:g.33136123C>T | GRCh37 |
| NC_000007.12:g.33102648C>T | NCBI36 |
| NG_012968.1:g.17880G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474370.2:n.2422G>A | ||
| ENST00000492391.2:n.1573G>A | ||
| ENST00000682645.1:n.3520G>A | ||
| ENST00000683432.1:c.*624G>A | ENSP00000508174.1:n.*624G>A | |
| ENST00000684207.1:c.449G>A | ENSP00000506942.1:p.Arg150Gln | |
| ENST00000297157.8:c.449G>A MANE Select | ENSP00000297157.3:p.Arg150Gln | |
| ENST00000297157.7:c.449G>A | ENSP00000297157.3:p.Arg150Gln | |
| ENST00000448915.1:c.347G>A | ENSP00000411577.1:p.Arg116Gln | |
| NM_203288.1:c.449G>A | NP_976033.1:p.Arg150Gln | |
| XM_011515468.1:c.347G>A | XP_011513770.1:p.Arg116Gln | |
| XM_011515468.3:c.347G>A | XP_011513770.1:p.Arg116Gln | |
| NM_203288.2:c.449G>A MANE Select | NP_976033.1:p.Arg150Gln |