Linked Data
ClinVar Variation Id:
1920774
ClinVar RCV Id:
RCV002604250
dbSNP Id:
rs1738587865
gnomAD v4:
4-80202541-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80202541G>T , CM000666.2:g.80202541G>T | GRCh38 |
| NC_000004.11:g.81123695G>T , CM000666.1:g.81123695G>T | GRCh37 |
| NC_000004.10:g.81342719G>T | NCBI36 |
| NG_046725.1:g.22272G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.1079G>T MANE Select | ENSP00000406998.2:p.Ser360Ile | |
| ENST00000339711.8:c.1079G>T | ENSP00000339764.4:p.Ser360Ile | |
| ENST00000415738.2:c.1079G>T | ENSP00000406998.2:p.Ser360Ile | |
| ENST00000504452.5:c.1079G>T | ENSP00000423985.1:p.Ser360Ile | |
| ENST00000515013.5:c.1079G>T | ENSP00000425149.1:p.Ser360Ile | |
| NM_001099403.1:c.1079G>T | NP_001092873.1:p.Ser360Ile | |
| NM_020226.3:c.1079G>T | NP_064611.3:p.Ser360Ile | |
| XM_005263144.2:c.1082G>T | XP_005263201.1:p.Ser361Ile | |
| XM_005263145.2:c.1082G>T | XP_005263202.1:p.Ser361Ile | |
| XM_005263146.3:c.1079G>T | XP_005263203.1:p.Ser360Ile | |
| XM_011532133.1:c.1922G>T | XP_011530435.1:p.Ser641Ile | |
| XM_011532134.1:c.1919G>T | XP_011530436.1:p.Ser640Ile | |
| XM_011532135.1:c.1781G>T | XP_011530437.1:p.Ser594Ile | |
| XM_011532136.1:c.1634G>T | XP_011530438.1:p.Ser545Ile | |
| XM_011532137.1:c.1634G>T | XP_011530439.1:p.Ser545Ile | |
| XM_011532138.1:c.1634G>T | XP_011530440.1:p.Ser545Ile | |
| XM_011532139.1:c.1634G>T | XP_011530441.1:p.Ser545Ile | |
| XM_011532140.1:c.1634G>T | XP_011530442.1:p.Ser545Ile | |
| XM_011532141.1:c.1496G>T | XP_011530443.1:p.Ser499Ile | |
| XM_011532142.1:c.1475G>T | XP_011530444.1:p.Ser492Ile | |
| XM_005263146.4:c.1079G>T | XP_005263203.1:p.Ser360Ile | |
| XM_011532133.2:c.1922G>T | XP_011530435.1:p.Ser641Ile | |
| XM_011532135.2:c.1781G>T | XP_011530437.1:p.Ser594Ile | |
| XM_011532140.2:c.1634G>T | XP_011530442.1:p.Ser545Ile | |
| XM_011532141.3:c.1496G>T | XP_011530443.1:p.Ser499Ile | |
| XM_017008468.1:c.1631G>T | XP_016863957.1:p.Ser544Ile | |
| XM_017008469.1:c.1718G>T | XP_016863958.1:p.Ser573Ile | |
| XM_017008470.1:c.1634G>T | XP_016863959.1:p.Ser545Ile | |
| NM_001099403.2:c.1079G>T MANE Select | NP_001092873.1:p.Ser360Ile | |
| NM_020226.4:c.1079G>T | NP_064611.3:p.Ser360Ile |