Linked Data
ClinVar Variation Id:
445520
dbSNP Id:
rs759060806
ExAC:
9:138676362 T / C
gnomAD v2:
9-138676362-T-C
gnomAD v3:
9-135784516-T-C
gnomAD v4:
9-135784516-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135784516T>C , CM000671.2:g.135784516T>C | GRCh38 |
| NC_000009.11:g.138676362T>C , CM000671.1:g.138676362T>C | GRCh37 |
| NC_000009.10:g.137816183T>C | NCBI36 |
| NG_033070.1:g.87332T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371757.7:c.2944-19T>C MANE Select | ENSP00000360822.2:n.2944-19T>C | |
| ENST00000674572.1:c.2785-19T>C | ENSP00000501742.1:n.2785-19T>C | |
| ENST00000675090.1:c.2692-19T>C | ENSP00000501833.1:n.2692-19T>C | |
| ENST00000675399.1:c.2692-19T>C | ENSP00000501932.1:n.2692-19T>C | |
| ENST00000676421.1:c.2701-19T>C | ENSP00000502322.1:n.2701-19T>C | |
| ENST00000263604.5:c.2845-19T>C | ENSP00000263604.4:n.2845-19T>C | |
| ENST00000371757.6:c.2944-19T>C | ENSP00000360822.2:n.2944-19T>C | |
| ENST00000460750.5:c.*2554-19T>C | ENSP00000418777.1:n.*2554-19T>C | |
| ENST00000486577.6:c.2827-19T>C | ENSP00000417578.3:n.2827-19T>C | |
| ENST00000487664.5:c.2944-19T>C | ENSP00000417851.2:n.2944-19T>C | |
| ENST00000488444.6:c.2887-19T>C | ENSP00000419007.3:n.2887-19T>C | |
| ENST00000490355.6:c.2881-19T>C | ENSP00000418003.3:n.2881-19T>C | |
| ENST00000490363.3:n.2763-19T>C | ||
| ENST00000491806.6:c.2887-19T>C | ENSP00000419086.3:n.2887-19T>C | |
| ENST00000628528.2:c.2809-19T>C | ENSP00000486374.1:n.2809-19T>C | |
| ENST00000630792.2:c.2779-19T>C | ENSP00000486486.1:n.2779-19T>C | |
| ENST00000631073.2:c.2887-19T>C | ENSP00000486130.1:n.2887-19T>C | |
| ENST00000631193.1:c.810-19T>C | ENSP00000486830.1:n.810-19T>C | |
| NM_001272003.1:c.2809-19T>C | NP_001258932.1:n.2809-19T>C | |
| NM_020822.2:c.2944-19T>C | NP_065873.2:n.2944-19T>C | |
| XM_011518877.1:c.3079-19T>C | XP_011517179.1:n.3079-19T>C | |
| XM_011518878.1:c.3088-19T>C | XP_011517180.1:n.3088-19T>C | |
| XM_011518879.1:c.3079-19T>C | XP_011517181.1:n.3079-19T>C | |
| XM_011518880.1:c.2845-19T>C | XP_011517182.1:n.2845-19T>C | |
| XM_011518881.1:c.2434-19T>C | XP_011517183.1:n.2434-19T>C | |
| XM_011518877.3:c.3079-19T>C | XP_011517179.1:n.3079-19T>C | |
| XM_011518878.3:c.3088-19T>C | XP_011517180.1:n.3088-19T>C | |
| XM_011518879.3:c.3079-19T>C | XP_011517181.1:n.3079-19T>C | |
| XM_011518881.3:c.2434-19T>C | XP_011517183.1:n.2434-19T>C | |
| XM_017014931.1:c.2878-19T>C | XP_016870420.1:n.2878-19T>C | |
| XM_017014932.1:c.2701-19T>C | XP_016870421.1:n.2701-19T>C | |
| XM_017014933.1:c.2434-19T>C | XP_016870422.1:n.2434-19T>C | |
| XM_024447617.1:c.2434-19T>C | XP_024303385.1:n.2434-19T>C | |
| XM_024447618.1:c.2434-19T>C | XP_024303386.1:n.2434-19T>C | |
| NM_020822.3:c.2944-19T>C MANE Select | NP_065873.2:n.2944-19T>C | |
| NM_001272003.2:c.2809-19T>C | NP_001258932.1:n.2809-19T>C |