Linked Data
ClinVar Variation Id:
2221541
ClinVar RCV Id:
RCV002706828
dbSNP Id:
rs748641693
ExAC:
1:43804251 T / C
gnomAD v3:
1-43338580-T-C
gnomAD v4:
1-43338580-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338580T>C , CM000663.2:g.43338580T>C | GRCh38 |
| NC_000001.10:g.43804251T>C , CM000663.1:g.43804251T>C | GRCh37 |
| NC_000001.9:g.43576838T>C | NCBI36 |
| NG_007525.1:g.5777T>C , LRG_510:g.5777T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.251T>C MANE Select | ENSP00000361548.3:p.Met84Thr | |
| ENST00000413998.7:c.230T>C | ENSP00000414004.3:p.Met77Thr | |
| ENST00000638732.1:n.251T>C | ||
| ENST00000372470.7:c.251T>C | ENSP00000361548.3:p.Met84Thr | |
| ENST00000413998.6:c.251T>C | ENSP00000414004.2:p.Met84Thr | |
| ENST00000612993.1:c.251T>C | ENSP00000480273.1:p.Met84Thr | |
| NM_005373.2:c.251T>C , LRG_510t1:c.251T>C | NP_005364.1:p.Met84Thr | |
| XM_011541478.1:c.230T>C | XP_011539780.1:p.Met77Thr | |
| XM_017001320.1:c.422T>C | XP_016856809.1:p.Met141Thr | |
| NM_005373.3:c.251T>C MANE Select | NP_005364.1:p.Met84Thr |