Linked Data
dbSNP Id:
rs755852718
ExAC:
6:33636855 A / T
gnomAD v2:
6-33636855-A-T
gnomAD v4:
6-33669078-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33669078A>T , CM000668.2:g.33669078A>T | GRCh38 |
| NC_000006.11:g.33636855A>T , CM000668.1:g.33636855A>T | GRCh37 |
| NC_000006.10:g.33744833A>T | NCBI36 |
| NG_027729.1:g.52700A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2111A>T MANE Select | ENSP00000475177.1:p.His704Leu | |
| ENST00000374316.9:c.2111A>T | ENSP00000363435.4:p.His704Leu | |
| ENST00000605930.2:c.2111A>T | ENSP00000475177.1:p.His704Leu | |
| NM_002224.3:c.2111A>T | NP_002215.2:p.His704Leu | |
| XM_011514576.1:c.2180A>T | XP_011512878.1:p.His727Leu | |
| XM_011514577.1:c.1928A>T | XP_011512879.1:p.His643Leu | |
| XM_011514577.3:c.1928A>T | XP_011512879.1:p.His643Leu | |
| XM_017010832.1:c.2111A>T | XP_016866321.1:p.His704Leu | |
| NM_002224.4:c.2111A>T MANE Select | NP_002215.2:p.His704Leu |