Linked Data
ClinVar Variation Id:
143861
ClinVar RCV Id:
RCV000133400
dbSNP Id:
rs587777609
gnomAD v4:
5-139480849-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139480849T>C , CM000667.2:g.139480849T>C | GRCh38 |
| NC_000005.9:g.138860434T>C , CM000667.1:g.138860434T>C | GRCh37 |
| NC_000005.8:g.138840618T>C | NCBI36 |
| NG_034249.1:g.6942A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330794.9:c.461A>G MANE Select | ENSP00000331288.4:p.Asn154Ser | |
| ENST00000502362.2:n.1236A>G | ||
| ENST00000510817.2:c.461A>G | ENSP00000427455.2:p.Asn154Ser | |
| ENST00000511886.6:n.1403A>G | ||
| ENST00000512606.6:n.697A>G | ||
| ENST00000514119.6:n.680A>G | ||
| ENST00000650883.1:c.104A>G | ENSP00000499142.1:p.Asn35Ser | |
| ENST00000651565.1:c.104A>G | ENSP00000498768.1:p.Asn35Ser | |
| ENST00000651699.1:c.461A>G | ENSP00000499166.1:p.Asn154Ser | |
| ENST00000652110.1:c.461A>G | ENSP00000498513.1:p.Asn154Ser | |
| ENST00000652271.1:c.461A>G | ENSP00000498596.1:p.Asn154Ser | |
| ENST00000652543.1:c.104A>G | ENSP00000498683.1:p.Asn35Ser | |
| ENST00000330794.8:c.461A>G | ENSP00000331288.4:p.Asn154Ser | |
| ENST00000502825.1:n.239A>G | ||
| ENST00000503287.5:n.353A>G | ||
| ENST00000503838.1:n.501A>G | ||
| ENST00000507297.5:n.1098A>G | ||
| ENST00000509573.5:n.260A>G | ||
| ENST00000510817.1:c.461A>G | ENSP00000427455.1:p.Asn154Ser | |
| ENST00000511850.1:n.683A>G | ||
| ENST00000511886.5:n.467A>G | ||
| ENST00000512606.5:n.386A>G | ||
| ENST00000514119.5:n.898A>G | ||
| ENST00000515507.5:n.507A>G | ||
| NM_001301738.1:c.461A>G | NP_001288667.1:p.Asn154Ser | |
| NM_198282.3:c.461A>G | NP_938023.1:p.Asn154Ser | |
| XM_005268445.2:c.461A>G | XP_005268502.1:p.Asn154Ser | |
| XM_011537639.1:c.461A>G | XP_011535941.1:p.Asn154Ser | |
| XM_011537640.1:c.104A>G | XP_011535942.1:p.Asn35Ser | |
| XM_005268445.4:c.461A>G | XP_005268502.1:p.Asn154Ser | |
| XM_011537639.3:c.461A>G | XP_011535941.1:p.Asn154Ser | |
| XM_011537640.2:c.104A>G | XP_011535942.1:p.Asn35Ser | |
| NM_001301738.2:c.461A>G | NP_001288667.1:p.Asn154Ser | |
| NM_001367258.1:c.104A>G | NP_001354187.1:p.Asn35Ser | |
| NM_198282.4:c.461A>G MANE Select | NP_938023.1:p.Asn154Ser |