Linked Data
ClinVar Variation Id:
2966065
ClinVar RCV Id:
RCV003820679
dbSNP Id:
rs778806706
ExAC:
9:2116013 C / T
gnomAD v2:
9-2116013-C-T
gnomAD v4:
9-2116013-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2116013C>T , CM000671.2:g.2116013C>T | GRCh38 |
| NC_000009.11:g.2116013C>T , CM000671.1:g.2116013C>T | GRCh37 |
| NC_000009.10:g.2106013C>T | NCBI36 |
| NG_032162.1:g.105672C>T | |
| NG_032162.2:g.140724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704350.1:c.3288C>T | ENSP00000515861.1:p.Phe1096= | |
| ENST00000704352.1:c.1174-45673C>T | ENSP00000515863.1:n.1174-45673C>T | |
| ENST00000704353.1:c.1174-45673C>T | ENSP00000515864.1:n.1174-45673C>T | |
| ENST00000704354.1:c.3632C>T | ||
| ENST00000704355.1:c.2012C>T | ||
| ENST00000349721.8:c.3648C>T MANE Select | ENSP00000265773.5:p.Phe1216= | |
| ENST00000357248.8:c.3648C>T | ENSP00000349788.2:p.Phe1216= | |
| ENST00000635739.1:n.2316C>T | ||
| ENST00000636157.1:n.1255C>T | ||
| ENST00000638139.1:n.682C>T | ||
| ENST00000349721.7:c.3648C>T | ENSP00000265773.5:p.Phe1216= | |
| ENST00000357248.7:c.3648C>T | ENSP00000349788.2:p.Phe1216= | |
| ENST00000382194.6:c.3648C>T | ENSP00000371629.1:p.Phe1216= | |
| ENST00000382203.5:c.3648C>T | ENSP00000371638.1:p.Phe1216= | |
| ENST00000450198.6:c.3474C>T | ENSP00000392081.2:p.Phe1158= | |
| ENST00000634760.1:c.3648C>T | ENSP00000489256.1:p.Phe1216= | |
| ENST00000634772.1:c.62-3445C>T | ||
| ENST00000634925.1:n.1139C>T | ||
| NM_001289396.1:c.3648C>T | NP_001276325.1:p.Phe1216= | |
| NM_001289397.1:c.3474C>T | NP_001276326.1:p.Phe1158= | |
| NM_003070.4:c.3648C>T | NP_003061.3:p.Phe1216= | |
| NM_139045.3:c.3648C>T | NP_620614.2:p.Phe1216= | |
| NM_003070.5:c.3648C>T MANE Select | NP_003061.3:p.Phe1216= | |
| NM_001289397.2:c.3474C>T | NP_001276326.1:p.Phe1158= | |
| NM_139045.4:c.3648C>T | NP_620614.2:p.Phe1216= |