Linked Data
dbSNP Id:
rs376666175
ExAC:
6:160575900 A / T
gnomAD v2:
6-160575900-A-T
gnomAD v3:
6-160154868-A-T
gnomAD v4:
6-160154868-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160154868A>T , CM000668.2:g.160154868A>T | GRCh38 |
| NC_000006.11:g.160575900A>T , CM000668.1:g.160575900A>T | GRCh37 |
| NC_000006.10:g.160495890A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366963.9:c.1456A>T MANE Select | ENSP00000355930.4:p.Arg486Trp | |
| ENST00000324965.8:c.1386-1107A>T | ENSP00000318103.4:n.1386-1107A>T | |
| ENST00000366963.8:c.1456A>T | ENSP00000355930.4:p.Arg486Trp | |
| ENST00000457470.6:c.1386-3648A>T | ENSP00000409557.2:n.1386-3648A>T | |
| ENST00000460902.2:c.1241A>T | ENSP00000439274.1:n.1241A>T | |
| ENST00000539263.5:c.*929A>T | ENSP00000443245.1:n.*929A>T | |
| NM_003057.2:c.1456A>T | NP_003048.1:p.Arg486Trp | |
| NM_153187.1:c.1386-1107A>T | NP_694857.1:n.1386-1107A>T | |
| XM_005267102.3:c.1456A>T | XP_005267159.1:p.Arg486Trp | |
| XM_005267103.1:c.1456A>T | XP_005267160.1:p.Arg486Trp | |
| XM_005267104.3:c.880A>T | XP_005267161.1:p.Arg294Trp | |
| XM_005267105.3:c.880A>T | XP_005267162.1:p.Arg294Trp | |
| XM_006715552.1:c.1386-3648A>T | XP_006715615.1:n.1386-3648A>T | |
| XM_011536074.1:c.880A>T | XP_011534376.1:p.Arg294Trp | |
| XM_005267102.5:c.1456A>T | XP_005267159.1:p.Arg486Trp | |
| XM_005267103.2:c.1456A>T | XP_005267160.1:p.Arg486Trp | |
| XM_005267104.5:c.880A>T | XP_005267161.1:p.Arg294Trp | |
| XM_005267105.5:c.880A>T | XP_005267162.1:p.Arg294Trp | |
| XM_006715552.2:c.1386-3648A>T | XP_006715615.1:n.1386-3648A>T | |
| XM_011536074.3:c.880A>T | XP_011534376.1:p.Arg294Trp | |
| NM_003057.3:c.1456A>T MANE Select | NP_003048.1:p.Arg486Trp | |
| NM_153187.2:c.1386-1107A>T | NP_694857.1:n.1386-1107A>T |