Linked Data
ClinVar Variation Id:
286683
dbSNP Id:
rs760637052
ExAC:
9:103014593 T / C
gnomAD v2:
9-103014593-T-C
gnomAD v3:
9-100252311-T-C
gnomAD v4:
9-100252311-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.100252311T>C , CM000671.2:g.100252311T>C | GRCh38 |
| NC_000009.11:g.103014593T>C , CM000671.1:g.103014593T>C | GRCh37 |
| NC_000009.10:g.102054414T>C | NCBI36 |
| NG_008316.1:g.158083T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262457.7:c.1107T>C MANE Select | ENSP00000262457.2:p.His369= | |
| ENST00000262456.6:c.1107T>C | ENSP00000262456.2:p.His369= | |
| ENST00000262457.6:c.1107T>C | ENSP00000262457.2:p.His369= | |
| NM_014425.3:c.1107T>C | NP_055240.2:p.His369= | |
| NM_183245.2:c.1107T>C | NP_899068.1:p.His369= | |
| NR_051962.1:n.1416T>C | ||
| XM_005251923.3:c.1107T>C | XP_005251980.1:p.His369= | |
| XM_005251924.3:c.819T>C | XP_005251981.1:p.His273= | |
| XM_011518531.1:c.1107T>C | XP_011516833.1:p.His369= | |
| XM_011518532.1:c.1107T>C | XP_011516834.1:p.His369= | |
| XM_011518533.1:c.1107T>C | XP_011516835.1:p.His369= | |
| XM_011518534.1:c.819T>C | XP_011516836.1:p.His273= | |
| XM_011518535.1:c.819T>C | XP_011516837.1:p.His273= | |
| XM_011518536.1:c.819T>C | XP_011516838.1:p.His273= | |
| XM_011518537.1:c.819T>C | XP_011516839.1:p.His273= | |
| XM_011518538.1:c.819T>C | XP_011516840.1:p.His273= | |
| XM_011518539.1:c.786T>C | XP_011516841.1:p.His262= | |
| XM_011518540.1:c.786T>C | XP_011516842.1:p.His262= | |
| XM_011518541.1:c.786T>C | XP_011516843.1:p.His262= | |
| XM_011518542.1:c.819T>C | XP_011516844.1:p.His273= | |
| XM_011518543.1:c.129T>C | XP_011516845.1:p.His43= | |
| XM_011518544.1:c.129T>C | XP_011516846.1:p.His43= | |
| XR_242585.1:n.1363T>C | ||
| XR_242586.1:n.1363T>C | ||
| XR_428522.1:n.1363T>C | ||
| NM_001318381.1:c.819T>C | NP_001305310.1:p.His273= | |
| NM_001318382.1:c.129T>C | NP_001305311.1:p.His43= | |
| NM_014425.4:c.1107T>C | NP_055240.2:p.His369= | |
| NR_134606.1:n.1363T>C | ||
| NM_014425.5:c.1107T>C MANE Select | NP_055240.2:p.His369= | |
| NM_001318381.2:c.819T>C | NP_001305310.1:p.His273= | |
| NM_001318382.2:c.129T>C | NP_001305311.1:p.His43= | |
| NR_134606.2:n.1305T>C |