Linked Data
ClinVar Variation Id:
305632
dbSNP Id:
rs148805312
ExAC:
11:66638282 T / C
gnomAD v2:
11-66638282-T-C
gnomAD v3:
11-66870811-T-C
gnomAD v4:
11-66870811-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66870811T>C , CM000673.2:g.66870811T>C | GRCh38 |
| NC_000011.9:g.66638282T>C , CM000673.1:g.66638282T>C | GRCh37 |
| NC_000011.8:g.66394858T>C | NCBI36 |
| NG_008319.1:g.92566A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393958.7:c.715A>G | ENSP00000377530.2:p.Ile239Val | |
| ENST00000393960.7:c.715A>G MANE Select | ENSP00000377532.1:p.Ile239Val | |
| ENST00000524491.6:c.715A>G | ENSP00000434192.2:p.Ile239Val | |
| ENST00000525476.2:n.290-20746A>G | ||
| ENST00000528224.2:c.715A>G | ENSP00000498317.1:p.Ile239Val | |
| ENST00000528403.6:c.715A>G | ENSP00000498816.1:p.Ile239Val | |
| ENST00000529047.6:c.715A>G | ENSP00000435905.2:p.Ile239Val | |
| ENST00000651036.1:c.715A>G | ENSP00000498406.1:p.Ile239Val | |
| ENST00000651469.1:c.715A>G | ENSP00000498712.1:p.Ile239Val | |
| ENST00000651854.1:c.715A>G | ENSP00000498994.1:p.Ile239Val | |
| ENST00000652125.1:c.715A>G | ENSP00000498302.1:p.Ile239Val | |
| ENST00000393955.6:c.715A>G | ENSP00000377527.2:p.Ile239Val | |
| ENST00000393958.6:c.715A>G | ENSP00000377530.2:p.Ile239Val | |
| ENST00000393960.5:c.715A>G | ENSP00000377532.1:p.Ile239Val | |
| ENST00000524491.5:c.595A>G | ENSP00000434192.1:p.Ile199Val | |
| ENST00000628663.1:c.595A>G | ENSP00000486373.1:p.Ile199Val | |
| NM_000920.3:c.715A>G | NP_000911.2:p.Ile239Val | |
| NM_001040716.1:c.715A>G | NP_001035806.1:p.Ile239Val | |
| NM_022172.2:c.715A>G | NP_071504.2:p.Ile239Val | |
| XM_005274031.3:c.715A>G | XP_005274088.1:p.Ile239Val | |
| XM_005274032.3:c.715A>G | XP_005274089.1:p.Ile239Val | |
| XM_006718577.2:c.715A>G | XP_006718640.1:p.Ile239Val | |
| XM_006718578.2:c.715A>G | XP_006718641.1:p.Ile239Val | |
| XM_011545085.1:c.715A>G | XP_011543387.1:p.Ile239Val | |
| XM_011545086.1:c.715A>G | XP_011543388.1:p.Ile239Val | |
| XM_005274031.4:c.715A>G | XP_005274088.1:p.Ile239Val | |
| XM_005274032.4:c.715A>G | XP_005274089.1:p.Ile239Val | |
| XM_006718578.3:c.715A>G | XP_006718641.1:p.Ile239Val | |
| XM_011545086.2:c.715A>G | XP_011543388.1:p.Ile239Val | |
| XM_017017868.1:c.715A>G | XP_016873357.1:p.Ile239Val | |
| XM_017017869.1:c.715A>G | XP_016873358.1:p.Ile239Val | |
| XM_017017870.1:c.715A>G | XP_016873359.1:p.Ile239Val | |
| XM_017017871.1:c.715A>G | XP_016873360.1:p.Ile239Val | |
| XM_017017872.2:c.715A>G | XP_016873361.1:p.Ile239Val | |
| NM_000920.4:c.715A>G | NP_000911.2:p.Ile239Val | |
| NM_001040716.2:c.715A>G MANE Select | NP_001035806.1:p.Ile239Val | |
| NM_022172.3:c.715A>G | NP_071504.2:p.Ile239Val |