Linked Data
ClinVar Variation Id:
2779813
ClinVar RCV Id:
RCV003755089
gnomAD v4:
4-80202026-T-C
MyVariant Identifiers:
chr4:g.81123180T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80202026T>C , CM000666.2:g.80202026T>C | GRCh38 |
| NC_000004.11:g.81123180T>C , CM000666.1:g.81123180T>C | GRCh37 |
| NC_000004.10:g.81342204T>C | NCBI36 |
| NG_046725.1:g.21757T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.564T>C MANE Select | ENSP00000406998.2:p.Ser188= | |
| ENST00000339711.8:c.564T>C | ENSP00000339764.4:p.Ser188= | |
| ENST00000415738.2:c.564T>C | ENSP00000406998.2:p.Ser188= | |
| ENST00000504452.5:c.564T>C | ENSP00000423985.1:p.Ser188= | |
| ENST00000515013.5:c.564T>C | ENSP00000425149.1:p.Ser188= | |
| NM_001099403.1:c.564T>C | NP_001092873.1:p.Ser188= | |
| NM_020226.3:c.564T>C | NP_064611.3:p.Ser188= | |
| XM_005263144.2:c.567T>C | XP_005263201.1:p.Ser189= | |
| XM_005263145.2:c.567T>C | XP_005263202.1:p.Ser189= | |
| XM_005263146.3:c.564T>C | XP_005263203.1:p.Ser188= | |
| XM_011532133.1:c.1407T>C | XP_011530435.1:p.Ser469= | |
| XM_011532134.1:c.1404T>C | XP_011530436.1:p.Ser468= | |
| XM_011532135.1:c.1266T>C | XP_011530437.1:p.Ser422= | |
| XM_011532136.1:c.1119T>C | XP_011530438.1:p.Ser373= | |
| XM_011532137.1:c.1119T>C | XP_011530439.1:p.Ser373= | |
| XM_011532138.1:c.1119T>C | XP_011530440.1:p.Ser373= | |
| XM_011532139.1:c.1119T>C | XP_011530441.1:p.Ser373= | |
| XM_011532140.1:c.1119T>C | XP_011530442.1:p.Ser373= | |
| XM_011532141.1:c.981T>C | XP_011530443.1:p.Ser327= | |
| XM_011532142.1:c.960T>C | XP_011530444.1:p.Ser320= | |
| XM_005263146.4:c.564T>C | XP_005263203.1:p.Ser188= | |
| XM_011532133.2:c.1407T>C | XP_011530435.1:p.Ser469= | |
| XM_011532135.2:c.1266T>C | XP_011530437.1:p.Ser422= | |
| XM_011532140.2:c.1119T>C | XP_011530442.1:p.Ser373= | |
| XM_011532141.3:c.981T>C | XP_011530443.1:p.Ser327= | |
| XM_017008468.1:c.1116T>C | XP_016863957.1:p.Ser372= | |
| XM_017008469.1:c.1203T>C | XP_016863958.1:p.Ser401= | |
| XM_017008470.1:c.1119T>C | XP_016863959.1:p.Ser373= | |
| NM_001099403.2:c.564T>C MANE Select | NP_001092873.1:p.Ser188= | |
| NM_020226.4:c.564T>C | NP_064611.3:p.Ser188= |