Linked Data
ClinVar Variation Id:
3335
dbSNP Id:
rs104894039
ExAC:
7:33135003 T / C
gnomAD v2:
7-33135003-T-C
gnomAD v3:
7-33095391-T-C
gnomAD v4:
7-33095391-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33095391T>C , CM000669.2:g.33095391T>C | GRCh38 |
| NC_000007.13:g.33135003T>C , CM000669.1:g.33135003T>C | GRCh37 |
| NC_000007.12:g.33101528T>C | NCBI36 |
| NG_012968.1:g.19000A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474370.2:n.2482A>G | ||
| ENST00000492391.2:n.1633A>G | ||
| ENST00000682645.1:n.3580A>G | ||
| ENST00000683432.1:c.*684A>G | ENSP00000508174.1:n.*684A>G | |
| ENST00000684207.1:c.*1098A>G | ENSP00000506942.1:n.*1098A>G | |
| ENST00000297157.8:c.509A>G MANE Select | ENSP00000297157.3:p.Asp170Gly | |
| ENST00000297157.7:c.509A>G | ENSP00000297157.3:p.Asp170Gly | |
| ENST00000448915.1:c.407A>G | ENSP00000411577.1:p.Asp136Gly | |
| NM_203288.1:c.509A>G | NP_976033.1:p.Asp170Gly | |
| XM_011515468.1:c.407A>G | XP_011513770.1:p.Asp136Gly | |
| XM_011515468.3:c.407A>G | XP_011513770.1:p.Asp136Gly | |
| NM_203288.2:c.509A>G MANE Select | NP_976033.1:p.Asp170Gly |