Linked Data
dbSNP Id:
rs774492794
ExAC:
1:43814986 C / T
gnomAD v2:
1-43814986-C-T
gnomAD v4:
1-43349315-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43349315C>T , CM000663.2:g.43349315C>T | GRCh38 |
| NC_000001.10:g.43814986C>T , CM000663.1:g.43814986C>T | GRCh37 |
| NC_000001.9:g.43587573C>T | NCBI36 |
| NG_007525.1:g.16512C>T , LRG_510:g.16512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1521C>T MANE Select | ENSP00000361548.3:p.Val507= | |
| ENST00000413998.7:c.1500C>T | ENSP00000414004.3:p.Val500= | |
| ENST00000638732.1:n.1521C>T | ||
| ENST00000643351.1:c.53C>T | ||
| ENST00000372470.7:c.1521C>T | ENSP00000361548.3:p.Val507= | |
| ENST00000413998.6:c.1521C>T | ENSP00000414004.2:p.Val507= | |
| ENST00000612993.1:c.1521C>T | ENSP00000480273.1:p.Val507= | |
| NM_005373.2:c.1521C>T , LRG_510t1:c.1521C>T | NP_005364.1:p.Val507= | |
| XM_011541478.1:c.1500C>T | XP_011539780.1:p.Val500= | |
| XM_017001320.1:c.1692C>T | XP_016856809.1:p.Val564= | |
| NM_005373.3:c.1521C>T MANE Select | NP_005364.1:p.Val507= |