Linked Data
dbSNP Id:
rs757987716
ExAC:
8:18257826 A / T
gnomAD v2:
8-18257826-A-T
gnomAD v4:
8-18400316-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400316A>T , CM000670.2:g.18400316A>T | GRCh38 |
| NC_000008.10:g.18257826A>T , CM000670.1:g.18257826A>T | GRCh37 |
| NC_000008.9:g.18302106A>T | NCBI36 |
| NG_012246.1:g.14072A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.313A>T MANE Select | ENSP00000286479.3:p.Met105Leu | |
| ENST00000286479.3:c.313A>T | ENSP00000286479.3:p.Met105Leu | |
| ENST00000520116.1:c.-57-21A>T | ENSP00000428416.1:n.-57-21A>T | |
| NM_000015.2:c.313A>T | NP_000006.2:p.Met105Leu | |
| XM_011544358.1:c.313A>T | XP_011542660.1:p.Met105Leu | |
| XM_017012938.1:c.313A>T | XP_016868427.1:p.Met105Leu | |
| NM_000015.3:c.313A>T MANE Select | NP_000006.2:p.Met105Leu |