Linked Data
ClinVar Variation Id:
2897386
ClinVar RCV Id:
RCV003633989
dbSNP Id:
rs982883277
gnomAD v4:
1-119915358-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915358G>A , CM000663.2:g.119915358G>A | GRCh38 |
| NC_000001.10:g.120457981G>A , CM000663.1:g.120457981G>A | GRCh37 |
| NC_000001.9:g.120259504G>A | NCBI36 |
| NG_008163.1:g.159296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.7364C>T MANE Select | ENSP00000256646.2:p.Pro2455Leu | |
| ENST00000256646.6:c.7364C>T | ENSP00000256646.2:p.Pro2455Leu | |
| NM_024408.3:c.7364C>T | NP_077719.2:p.Pro2455Leu | |
| XM_005270901.2:c.7247C>T | XP_005270958.1:p.Pro2416Leu | |
| XM_011541519.1:c.7352C>T | XP_011539821.1:p.Pro2451Leu | |
| XM_011541520.1:c.7247C>T | XP_011539822.1:p.Pro2416Leu | |
| NM_024408.4:c.7364C>T MANE Select | NP_077719.2:p.Pro2455Leu |