Linked Data
ClinVar Variation Id:
901795
ClinVar RCV Id:
RCV001147898
dbSNP Id:
rs144100272
gnomAD v2:
3-128780351-C-T
gnomAD v3:
3-129061508-C-T
gnomAD v4:
3-129061508-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061508C>T , CM000665.2:g.129061508C>T | GRCh38 |
| NC_000003.11:g.128780351C>T , CM000665.1:g.128780351C>T | GRCh37 |
| NC_000003.10:g.130263041C>T | NCBI36 |
| NG_008715.1:g.5707C>T , LRG_477:g.5707C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.-124C>T MANE Select | ENSP00000303942.4:n.-124C>T | |
| ENST00000307395.4:c.-124C>T | ENSP00000303942.4:n.-124C>T | |
| NM_000174.4:c.-124C>T , LRG_477t1:c.-124C>T | NP_000165.1:n.-124C>T | |
| XM_005247374.3:c.-124C>T | XP_005247431.1:n.-124C>T | |
| XM_011512701.1:c.-124C>T | XP_011511003.1:n.-124C>T | |
| XM_011512702.1:c.-12-220C>T | XP_011511004.1:n.-12-220C>T | |
| NM_000174.5:c.-124C>T MANE Select | NP_000165.1:n.-124C>T |