Linked Data
ClinVar Variation Id:
214567
ClinVar RCV Id:
RCV000197511
dbSNP Id:
rs377245038
ExAC:
5:145506074 A / G
gnomAD v2:
5-145506074-A-G
gnomAD v3:
5-146126511-A-G
gnomAD v4:
5-146126511-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146126511A>G , CM000667.2:g.146126511A>G | GRCh38 |
| NC_000005.9:g.145506074A>G , CM000667.1:g.145506074A>G | GRCh37 |
| NC_000005.8:g.145486267A>G | NCBI36 |
| NG_042294.1:g.61221T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.2915T>C MANE Select | ENSP00000377954.2:p.Ile972Thr | |
| ENST00000504323.6:n.3345T>C | ||
| ENST00000506231.6:n.5797T>C | ||
| ENST00000674158.1:c.2534T>C | ENSP00000501474.1:p.Ile845Thr | |
| ENST00000674170.1:c.*1353T>C | ENSP00000501381.1:n.*1353T>C | |
| ENST00000674174.1:c.2753T>C | ENSP00000501434.1:p.Ile918Thr | |
| ENST00000674181.1:c.1162T>C | ||
| ENST00000674191.1:c.2459T>C | ENSP00000501478.1:p.Ile820Thr | |
| ENST00000674218.1:n.5702T>C | ||
| ENST00000674270.1:c.2777T>C | ENSP00000501365.1:p.Ile926Thr | |
| ENST00000674277.1:c.2750T>C | ENSP00000501510.1:p.Ile917Thr | |
| ENST00000674290.1:c.2879T>C | ENSP00000501435.1:p.Ile960Thr | |
| ENST00000674309.1:c.*271T>C | ENSP00000501400.1:n.*271T>C | |
| ENST00000674310.1:c.2915T>C | ENSP00000501486.1:p.Ile972Thr | |
| ENST00000674383.1:n.5568T>C | ||
| ENST00000674398.1:c.2912T>C | ENSP00000501476.1:p.Ile971Thr | |
| ENST00000674447.1:c.2834T>C | ENSP00000501376.1:p.Ile945Thr | |
| ENST00000674467.1:c.*837T>C | ENSP00000501351.1:n.*837T>C | |
| ENST00000674471.1:n.3183T>C | ||
| ENST00000674479.1:n.3952T>C | ||
| ENST00000274562.13:c.842T>C | ENSP00000274562.10:p.Ile281Thr | |
| ENST00000394434.6:c.2915T>C | ENSP00000377954.2:p.Ile972Thr | |
| ENST00000506231.5:n.2896T>C | ||
| ENST00000508709.1:n.449T>C | ||
| ENST00000510191.5:c.2753T>C | ENSP00000426005.1:p.Ile918Thr | |
| NM_020117.9:c.2915T>C | NP_064502.9:p.Ile972Thr | |
| XM_011537655.1:c.2777T>C | XP_011535957.1:p.Ile926Thr | |
| XM_011537656.1:c.2753T>C | XP_011535958.1:p.Ile918Thr | |
| XM_011537657.1:c.2702T>C | XP_011535959.1:p.Ile901Thr | |
| NM_001317964.1:c.2777T>C | NP_001304893.1:p.Ile926Thr | |
| NM_001317965.1:c.2753T>C | NP_001304894.1:p.Ile918Thr | |
| NM_016460.3:c.2834T>C | NP_057544.2:p.Ile945Thr | |
| NM_020117.10:c.2915T>C | NP_064502.9:p.Ile972Thr | |
| XM_011537656.3:c.2753T>C | XP_011535958.1:p.Ile918Thr | |
| NM_020117.11:c.2915T>C MANE Select | NP_064502.9:p.Ile972Thr | |
| NM_001317964.2:c.2777T>C | NP_001304893.1:p.Ile926Thr | |
| NM_001317965.2:c.2753T>C | NP_001304894.1:p.Ile918Thr | |
| NM_016460.4:c.2834T>C | NP_057544.2:p.Ile945Thr |