Linked Data
ClinVar Variation Id:
191179
dbSNP Id:
rs111784356
ExAC:
3:100948418 G / A
gnomAD v2:
3-100948418-G-A
gnomAD v3:
3-101229574-G-A
gnomAD v4:
3-101229574-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101229574G>A , CM000665.2:g.101229574G>A | GRCh38 |
| NC_000003.11:g.100948418G>A , CM000665.1:g.100948418G>A | GRCh37 |
| NC_000003.10:g.102431108G>A | NCBI36 |
| NG_028284.1:g.96002C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000193391.8:c.3439C>T MANE Select | ENSP00000193391.6:p.Pro1147Ser | |
| ENST00000193391.7:c.3439C>T | ENSP00000193391.6:p.Pro1147Ser | |
| NM_016247.3:c.3439C>T | NP_057331.2:p.Pro1147Ser | |
| XM_011512871.1:c.3145C>T | XP_011511173.1:p.Pro1049Ser | |
| XM_011512872.1:c.3028C>T | XP_011511174.1:p.Pro1010Ser | |
| NM_016247.4:c.3439C>T MANE Select | NP_057331.2:p.Pro1147Ser |