Linked Data
ClinVar Variation Id:
2354211
ClinVar RCV Id:
RCV004190532
dbSNP Id:
rs1274184394
gnomAD v2:
4-40123404-G-T
gnomAD v3:
4-40121784-G-T
gnomAD v4:
4-40121784-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40121784G>T , CM000666.2:g.40121784G>T | GRCh38 |
| NC_000004.11:g.40123404G>T , CM000666.1:g.40123404G>T | GRCh37 |
| NC_000004.10:g.39799799G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706658.1:c.*3464G>T | ENSP00000516486.1:n.*3464G>T | |
| ENST00000261435.11:c.3673G>T MANE Select | ENSP00000261435.6:p.Ala1225Ser | |
| ENST00000261435.10:c.3673G>T | ENSP00000261435.6:p.Ala1225Ser | |
| ENST00000511480.5:c.*3464G>T | ENSP00000422436.1:n.*3464G>T | |
| ENST00000513269.1:c.2612G>T | ||
| NM_018177.4:c.3673G>T | NP_060647.2:p.Ala1225Ser | |
| XM_006714022.2:c.3433G>T | XP_006714085.1:p.Ala1145Ser | |
| XM_006714023.2:c.3433G>T | XP_006714086.1:p.Ala1145Ser | |
| XM_011513715.1:c.4069G>T | XP_011512017.1:p.Ala1357Ser | |
| XM_011513716.1:c.4069G>T | XP_011512018.1:p.Ala1357Ser | |
| XM_011513717.1:c.4069G>T | XP_011512019.1:p.Ala1357Ser | |
| XM_011513718.1:c.3673G>T | XP_011512020.1:p.Ala1225Ser | |
| XM_011513719.1:c.3433G>T | XP_011512021.1:p.Ala1145Ser | |
| XM_011513720.1:c.3433G>T | XP_011512022.1:p.Ala1145Ser | |
| XM_011513721.1:c.3433G>T | XP_011512023.1:p.Ala1145Ser | |
| NM_001318359.1:c.3433G>T | NP_001305288.1:p.Ala1145Ser | |
| NM_018177.5:c.3673G>T | NP_060647.2:p.Ala1225Ser | |
| XM_006714023.3:c.3433G>T | XP_006714086.1:p.Ala1145Ser | |
| XM_011513716.2:c.4069G>T | XP_011512018.1:p.Ala1357Ser | |
| XM_011513717.2:c.4069G>T | XP_011512019.1:p.Ala1357Ser | |
| XM_011513718.2:c.3673G>T | XP_011512020.1:p.Ala1225Ser | |
| XM_011513719.2:c.3433G>T | XP_011512021.1:p.Ala1145Ser | |
| XM_017008397.1:c.4069G>T | XP_016863886.1:p.Ala1357Ser | |
| XM_017008398.1:c.3673G>T | XP_016863887.1:p.Ala1225Ser | |
| XM_017008399.1:c.3433G>T | XP_016863888.1:p.Ala1145Ser | |
| XR_001741283.1:n.4250G>T | ||
| NM_018177.6:c.3673G>T MANE Select | NP_060647.2:p.Ala1225Ser | |
| NM_001318359.2:c.3433G>T | NP_001305288.1:p.Ala1145Ser |