Linked Data
ClinVar Variation Id:
297407
dbSNP Id:
rs759161511
ExAC:
1:43814672 C / T
gnomAD v2:
1-43814672-C-T
gnomAD v3:
1-43349001-C-T
gnomAD v4:
1-43349001-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43349001C>T , CM000663.2:g.43349001C>T | GRCh38 |
| NC_000001.10:g.43814672C>T , CM000663.1:g.43814672C>T | GRCh37 |
| NC_000001.9:g.43587259C>T | NCBI36 |
| NG_007525.1:g.16198C>T , LRG_510:g.16198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1467C>T MANE Select | ENSP00000361548.3:p.Thr489= | |
| ENST00000413998.7:c.1446C>T | ENSP00000414004.3:p.Thr482= | |
| ENST00000638732.1:n.1467C>T | ||
| ENST00000372470.7:c.1467C>T | ENSP00000361548.3:p.Thr489= | |
| ENST00000413998.6:c.1467C>T | ENSP00000414004.2:p.Thr489= | |
| ENST00000612993.1:c.1467C>T | ENSP00000480273.1:p.Thr489= | |
| NM_005373.2:c.1467C>T , LRG_510t1:c.1467C>T | NP_005364.1:p.Thr489= | |
| XM_011541478.1:c.1446C>T | XP_011539780.1:p.Thr482= | |
| XM_017001320.1:c.1638C>T | XP_016856809.1:p.Thr546= | |
| NM_005373.3:c.1467C>T MANE Select | NP_005364.1:p.Thr489= |