MyVariant.info:
GRCh37
chr16:g.31202729C>T
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31191408C>T , CM000678.2:g.31191408C>T | GRCh38 |
| NC_000016.9:g.31202729C>T , CM000678.1:g.31202729C>T | GRCh37 |
| NC_000016.8:g.31110230C>T | NCBI36 |
| NG_012889.2:g.16277C>T , LRG_655:g.16277C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.1551C>T MANE Select | ENSP00000254108.8:p.His517= | |
| ENST00000254108.11:c.1551C>T | ENSP00000254108.7:p.His517= | |
| ENST00000380244.7:c.1548C>T | ENSP00000369594.3:p.His516= | |
| ENST00000483853.1:n.628C>T | ||
| ENST00000487509.6:n.4726C>T | ||
| ENST00000566605.5:c.*724C>T | ENSP00000455073.1:n.*724C>T | |
| ENST00000568685.1:c.1554C>T | ENSP00000455282.1:p.His518= | |
| ENST00000569760.5:n.442C>T | ||
| NM_001170634.1:c.1548C>T | NP_001164105.1:p.His516= | |
| NM_001170937.1:c.1539C>T | NP_001164408.1:p.His513= | |
| NM_004960.3:c.1551C>T , LRG_655t1:c.1551C>T | NP_004951.1:p.His517= | |
| NR_028388.2:n.1621C>T | ||
| XM_005255233.3:c.936C>T | XP_005255290.1:p.His312= | |
| XM_011545781.1:c.1545C>T | XP_011544083.1:p.His515= | |
| XM_011545782.1:c.936C>T | XP_011544084.1:p.His312= | |
| XM_005255233.5:c.936C>T | XP_005255290.1:p.His312= | |
| XM_011545782.2:c.936C>T | XP_011544084.1:p.His312= | |
| XM_024450221.1:c.1542C>T | XP_024305989.1:p.His514= | |
| NM_004960.4:c.1551C>T MANE Select | NP_004951.1:p.His517= |