Linked Data
ClinVar Variation Id:
1434325
dbSNP Id:
rs959176441
gnomAD v2:
5-132232307-T-C
gnomAD v3:
5-132896615-T-C
gnomAD v4:
5-132896615-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132896615T>C , CM000667.2:g.132896615T>C | GRCh38 |
| NC_000005.9:g.132232307T>C , CM000667.1:g.132232307T>C | GRCh37 |
| NC_000005.8:g.132260206T>C | NCBI36 |
| NG_030340.1:g.72048A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265343.10:c.2015A>G MANE Select | ENSP00000265343.5:p.Asn672Ser | |
| ENST00000265343.9:c.2015A>G | ENSP00000265343.5:p.Asn672Ser | |
| ENST00000378595.7:c.2015A>G | ENSP00000367858.3:p.Asn672Ser | |
| NM_014423.3:c.2015A>G | NP_055238.1:p.Asn672Ser | |
| XM_005271963.3:c.2015A>G | XP_005272020.1:p.Asn672Ser | |
| XM_005271964.3:c.881A>G | XP_005272021.1:p.Asn294Ser | |
| XM_006714587.2:c.1928A>G | XP_006714650.1:p.Asn643Ser | |
| XM_005271963.5:c.2015A>G | XP_005272020.1:p.Asn672Ser | |
| XM_005271964.4:c.881A>G | XP_005272021.1:p.Asn294Ser | |
| XM_006714587.4:c.1928A>G | XP_006714650.1:p.Asn643Ser | |
| NM_014423.4:c.2015A>G MANE Select | NP_055238.1:p.Asn672Ser |