Linked Data
ClinVar Variation Id:
2197708
ClinVar RCV Id:
RCV002637905
dbSNP Id:
rs758279791
ExAC:
4:16172337 T / A
gnomAD v2:
4-16172337-T-A
gnomAD v3:
4-16170714-T-A
gnomAD v4:
4-16170714-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.16170714T>A , CM000666.2:g.16170714T>A | GRCh38 |
| NC_000004.11:g.16172337T>A , CM000666.1:g.16172337T>A | GRCh37 |
| NC_000004.10:g.15781435T>A | NCBI36 |
| NG_033259.1:g.60825A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405303.7:c.1252A>T MANE Select | ENSP00000385347.2:p.Thr418Ser | |
| ENST00000405303.6:c.1252A>T | ENSP00000385347.2:p.Thr418Ser | |
| ENST00000505603.5:c.*767A>T | ENSP00000422652.1:n.*767A>T | |
| ENST00000507728.1:n.441+3490A>T | ||
| ENST00000508886.1:n.345+3490A>T | ||
| ENST00000513782.1:c.613+3490A>T | ||
| NM_153365.2:c.1252A>T | NP_699196.2:p.Thr418Ser | |
| XM_005248139.1:c.874A>T | XP_005248196.1:p.Thr292Ser | |
| XM_005248140.2:c.874A>T | XP_005248197.1:p.Thr292Ser | |
| XM_005248141.1:c.829A>T | XP_005248198.1:p.Thr277Ser | |
| XM_011513812.1:c.1117A>T | XP_011512114.1:p.Thr373Ser | |
| XM_011513813.1:c.1102A>T | XP_011512115.1:p.Thr368Ser | |
| XM_011513814.1:c.874A>T | XP_011512116.1:p.Thr292Ser | |
| XM_011513815.1:c.874A>T | XP_011512117.1:p.Thr292Ser | |
| XM_011513816.1:c.919A>T | XP_011512118.1:p.Thr307Ser | |
| XM_011513817.1:c.523A>T | XP_011512119.1:p.Thr175Ser | |
| XR_241676.2:n.1315+3490A>T | ||
| XR_925318.1:n.1180+3490A>T | ||
| XM_005248139.3:c.874A>T | XP_005248196.1:p.Thr292Ser | |
| XM_005248140.4:c.874A>T | XP_005248197.1:p.Thr292Ser | |
| XM_011513812.3:c.1117A>T | XP_011512114.1:p.Thr373Ser | |
| XM_011513816.3:c.919A>T | XP_011512118.1:p.Thr307Ser | |
| XM_011513817.3:c.523A>T | XP_011512119.1:p.Thr175Ser | |
| XM_017007876.2:c.829A>T | XP_016863365.1:p.Thr277Ser | |
| XR_241676.4:n.1250+3490A>T | ||
| XR_925318.3:n.1115+3490A>T | ||
| NM_153365.3:c.1252A>T MANE Select | NP_699196.2:p.Thr418Ser |