Linked Data
dbSNP Id:
rs560065769
ExAC:
10:101953789 C / A
gnomAD v2:
10-101953789-C-A
gnomAD v3:
10-100194032-C-A
gnomAD v4:
10-100194032-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100194032C>A , CM000672.2:g.100194032C>A | GRCh38 |
| NC_000010.10:g.101953789C>A , CM000672.1:g.101953789C>A | GRCh37 |
| NC_000010.9:g.101943779C>A | NCBI36 |
| NG_028023.1:g.40556G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370397.8:c.1926G>T MANE Select | ENSP00000359424.6:p.Met642Ile | |
| ENST00000370397.7:c.1926G>T | ENSP00000359424.6:p.Met642Ile | |
| ENST00000588656.1:n.48G>T | ||
| ENST00000590930.5:n.1911G>T | ||
| NM_001278.3:c.1926G>T | NP_001269.3:p.Met642Ile | |
| XM_011539196.1:c.1926G>T | XP_011537498.1:p.Met642Ile | |
| XM_011539197.1:c.1926G>T | XP_011537499.1:p.Met642Ile | |
| XM_011539198.1:c.1926G>T | XP_011537500.1:p.Met642Ile | |
| XR_945589.1:n.2004G>T | ||
| NM_001278.4:c.1926G>T | NP_001269.3:p.Met642Ile | |
| NM_001320928.1:c.1926G>T | NP_001307857.1:p.Met642Ile | |
| XM_017015611.1:c.1926G>T | XP_016871100.1:p.Met642Ile | |
| XM_017015613.1:c.714G>T | XP_016871102.1:p.Met238Ile | |
| XR_001747010.1:n.2004G>T | ||
| XR_001747011.1:n.1901G>T | ||
| NM_001278.5:c.1926G>T MANE Select | NP_001269.3:p.Met642Ile | |
| NM_001320928.2:c.1926G>T | NP_001307857.1:p.Met642Ile |