Linked Data
dbSNP Id:
rs763861274
ExAC:
7:75933147 T / C
gnomAD v2:
7-75933147-T-C
gnomAD v3:
7-76303830-T-C
gnomAD v4:
7-76303830-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303830T>C , CM000669.2:g.76303830T>C | GRCh38 |
| NC_000007.13:g.75933147T>C , CM000669.1:g.75933147T>C | GRCh37 |
| NC_000007.12:g.75771083T>C | NCBI36 |
| NG_008995.1:g.6273T>C , LRG_248:g.6273T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.393T>C MANE Select | ENSP00000248553.6:p.His131= | |
| ENST00000674547.1:c.393T>C | ENSP00000502461.1:p.His131= | |
| ENST00000674638.1:c.388T>C | ENSP00000502651.1:p.Trp130Arg | |
| ENST00000674650.1:c.365-154T>C | ENSP00000501628.1:n.365-154T>C | |
| ENST00000674965.1:c.*49T>C | ENSP00000501765.1:n.*49T>C | |
| ENST00000675134.1:c.393T>C | ENSP00000501831.1:p.His131= | |
| ENST00000675226.1:c.392T>C | ENSP00000502510.1:p.Met131Thr | |
| ENST00000675417.1:n.626T>C | ||
| ENST00000675538.1:c.428T>C | ENSP00000502495.1:p.Met143Thr | |
| ENST00000675906.1:c.393T>C | ENSP00000502714.1:p.His131= | |
| ENST00000676195.1:n.109T>C | ||
| ENST00000676231.1:c.423T>C | ENSP00000502249.1:p.His141= | |
| ENST00000248553.6:c.393T>C | ENSP00000248553.6:p.His131= | |
| ENST00000429938.1:c.-112T>C | ENSP00000405285.1:n.-112T>C | |
| ENST00000447574.1:c.*557T>C | ENSP00000414357.1:n.*557T>C | |
| NM_001540.3:c.393T>C , LRG_248t1:c.393T>C | NP_001531.1:p.His131= | |
| NM_001540.4:c.393T>C | NP_001531.1:p.His131= | |
| NM_001540.5:c.393T>C MANE Select | NP_001531.1:p.His131= |