Linked Data
ClinVar Variation Id:
1591160
ClinVar RCV Id:
RCV002103992
dbSNP Id:
rs550480973
ExAC:
3:128780732 G / T
gnomAD v2:
3-128780732-G-T
gnomAD v3:
3-129061889-G-T
gnomAD v4:
3-129061889-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061889G>T , CM000665.2:g.129061889G>T | GRCh38 |
| NC_000003.11:g.128780732G>T , CM000665.1:g.128780732G>T | GRCh37 |
| NC_000003.10:g.130263422G>T | NCBI36 |
| NG_008715.1:g.6088G>T , LRG_477:g.6088G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.150G>T MANE Select | ENSP00000303942.4:p.Pro50= | |
| ENST00000307395.4:c.150G>T | ENSP00000303942.4:p.Pro50= | |
| NM_000174.4:c.150G>T , LRG_477t1:c.150G>T | NP_000165.1:p.Pro50= | |
| XM_005247374.3:c.150G>T | XP_005247431.1:p.Pro50= | |
| XM_011512701.1:c.150G>T | XP_011511003.1:p.Pro50= | |
| XM_011512702.1:c.150G>T | XP_011511004.1:p.Pro50= | |
| NM_000174.5:c.150G>T MANE Select | NP_000165.1:p.Pro50= |