Linked Data
ClinVar Variation Id:
2947916
ClinVar RCV Id:
RCV003806738
gnomAD v4:
1-197421154-C-T
MyVariant Identifiers:
chr1:g.197390284C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421154C>T , CM000663.2:g.197421154C>T | GRCh38 |
| NC_000001.10:g.197390284C>T , CM000663.1:g.197390284C>T | GRCh37 |
| NC_000001.9:g.195656907C>T | NCBI36 |
| NG_008483.1:g.157877C>T | |
| NG_008483.2:g.224693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1326C>T MANE Select | ENSP00000356370.3:p.Leu442= | |
| ENST00000638467.1:c.1326C>T | ENSP00000491102.1:p.Leu442= | |
| ENST00000681519.1:c.207C>T | ENSP00000505267.1:p.Leu69= | |
| ENST00000367397.1:c.-532C>T | ENSP00000356367.1:n.-532C>T | |
| ENST00000367399.6:c.990C>T | ENSP00000356369.2:p.Leu330= | |
| ENST00000367400.7:c.1326C>T | ENSP00000356370.3:p.Leu442= | |
| ENST00000476483.1:n.286C>T | ||
| ENST00000484075.5:c.1326C>T | ENSP00000433932.1:p.Leu442= | |
| ENST00000535699.5:c.1119C>T | ENSP00000438786.1:p.Leu373= | |
| ENST00000538660.5:c.1326C>T | ENSP00000438091.1:p.Leu442= | |
| NM_001193640.1:c.990C>T | NP_001180569.1:p.Leu330= | |
| NM_001257965.1:c.1119C>T | NP_001244894.1:p.Leu373= | |
| NM_001257966.1:c.1326C>T | NP_001244895.1:p.Leu442= | |
| NM_201253.2:c.1326C>T | NP_957705.1:p.Leu442= | |
| NR_047563.1:n.1535C>T | ||
| NR_047564.1:n.1535C>T | ||
| XM_011509365.1:c.1326C>T | XP_011507667.1:p.Leu442= | |
| XM_011509366.1:c.1326C>T | XP_011507668.1:p.Leu442= | |
| XM_011509367.1:c.1326C>T | XP_011507669.1:p.Leu442= | |
| XM_011509368.1:c.744C>T | XP_011507670.1:p.Leu248= | |
| XM_011509369.1:c.-232C>T | XP_011507671.1:n.-232C>T | |
| XM_011509365.2:c.1326C>T | XP_011507667.1:p.Leu442= | |
| XM_011509369.2:c.-232C>T | XP_011507671.1:n.-232C>T | |
| XM_017000851.1:c.483C>T | XP_016856340.1:p.Leu161= | |
| XM_017000852.1:c.1326C>T | XP_016856341.1:p.Leu442= | |
| NM_201253.3:c.1326C>T MANE Select | NP_957705.1:p.Leu442= | |
| NM_001193640.2:c.990C>T | NP_001180569.1:p.Leu330= | |
| NM_001257965.2:c.1119C>T | NP_001244894.1:p.Leu373= | |
| NR_047563.2:n.1487C>T | ||
| NR_047564.2:n.1487C>T | ||
| NM_001257966.2:c.1326C>T | NP_001244895.1:p.Leu442= |