Linked Data
ClinVar Variation Id:
2934673
ClinVar RCV Id:
RCV003798375
MyVariant Identifiers:
chr1:g.197446865C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197477735C>T , CM000663.2:g.197477735C>T | GRCh38 |
| NC_000001.10:g.197446865C>T , CM000663.1:g.197446865C>T | GRCh37 |
| NC_000001.9:g.195713488C>T | NCBI36 |
| NG_008483.1:g.214458C>T | |
| NG_008483.2:g.281274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.4077C>T MANE Select | ENSP00000356370.3:p.Leu1359= | |
| ENST00000367399.6:c.3741C>T | ENSP00000356369.2:p.Leu1247= | |
| ENST00000367400.7:c.4077C>T | ENSP00000356370.3:p.Leu1359= | |
| ENST00000448952.1:c.311C>T | ENSP00000395407.1:n.311C>T | |
| ENST00000484075.5:c.*188C>T | ENSP00000433932.1:n.*188C>T | |
| ENST00000535699.5:c.4005C>T | ENSP00000438786.1:p.Leu1335= | |
| ENST00000538660.5:c.2469C>T | ENSP00000438091.1:p.Leu823= | |
| NM_001193640.1:c.3741C>T | NP_001180569.1:p.Leu1247= | |
| NM_001257965.1:c.4005C>T | NP_001244894.1:p.Leu1335= | |
| NM_001257966.1:c.2469C>T | NP_001244895.1:p.Leu823= | |
| NM_201253.2:c.4077C>T | NP_957705.1:p.Leu1359= | |
| NR_047563.1:n.4078C>T | ||
| NR_047564.1:n.4528C>T | ||
| XM_011509366.1:c.*182C>T | XP_011507668.1:n.*182C>T | |
| XM_011509367.1:c.*56C>T | XP_011507669.1:n.*56C>T | |
| XM_011509368.1:c.3495C>T | XP_011507670.1:p.Leu1165= | |
| XM_011509369.1:c.2520C>T | XP_011507671.1:p.Leu840= | |
| XM_011509369.2:c.2520C>T | XP_011507671.1:p.Leu840= | |
| XM_017000851.1:c.3234C>T | XP_016856340.1:p.Leu1078= | |
| XM_017000852.1:c.4212C>T | XP_016856341.1:p.Leu1404= | |
| NM_201253.3:c.4077C>T MANE Select | NP_957705.1:p.Leu1359= | |
| NM_001193640.2:c.3741C>T | NP_001180569.1:p.Leu1247= | |
| NM_001257965.2:c.4005C>T | NP_001244894.1:p.Leu1335= | |
| NR_047563.2:n.4030C>T | ||
| NR_047564.2:n.4480C>T | ||
| NM_001257966.2:c.2469C>T | NP_001244895.1:p.Leu823= |