Linked Data
ClinVar Variation Id:
1398770
ClinVar RCV Id:
RCV001922647
dbSNP Id:
rs978689124
gnomAD v3:
11-117344195-A-G
gnomAD v4:
11-117344195-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.117344195A>G , CM000673.2:g.117344195A>G | GRCh38 |
| NC_000011.9:g.117214911A>G , CM000673.1:g.117214911A>G | GRCh37 |
| NC_000011.8:g.116720121A>G | NCBI36 |
| NG_033032.1:g.27418A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278935.8:c.112A>G MANE Select | ENSP00000278935.3:p.Ile38Val | |
| ENST00000278935.7:c.112A>G | ENSP00000278935.3:p.Ile38Val | |
| ENST00000525416.5:c.-27A>G | ENSP00000435759.1:n.-27A>G | |
| ENST00000525734.5:c.112A>G | ENSP00000436609.1:p.Ile38Val | |
| ENST00000527609.5:c.112A>G | ENSP00000436351.2:p.Ile38Val | |
| ENST00000533153.5:c.-27A>G | ENSP00000436034.1:n.-27A>G | |
| ENST00000533570.1:c.112A>G | ENSP00000431302.1:p.Ile38Val | |
| NM_001271933.1:c.112A>G | NP_001258862.1:p.Ile38Val | |
| NM_014956.4:c.112A>G | NP_055771.4:p.Ile38Val | |
| XM_005271453.1:c.112A>G | XP_005271510.1:p.Ile38Val | |
| XM_005271456.1:c.112A>G | XP_005271513.1:p.Ile38Val | |
| XM_005271457.1:c.112A>G | XP_005271514.1:p.Ile38Val | |
| XM_006718788.1:c.112A>G | XP_006718851.1:p.Ile38Val | |
| XM_006718794.1:c.112A>G | XP_006718857.1:p.Ile38Val | |
| XM_011542670.1:c.112A>G | XP_011540972.1:p.Ile38Val | |
| XM_011542671.1:c.112A>G | XP_011540973.1:p.Ile38Val | |
| XM_011542672.1:c.112A>G | XP_011540974.1:p.Ile38Val | |
| XM_011542673.1:c.112A>G | XP_011540975.1:p.Ile38Val | |
| XM_011542674.1:c.112A>G | XP_011540976.1:p.Ile38Val | |
| XM_011542675.1:c.112A>G | XP_011540977.1:p.Ile38Val | |
| XM_011542676.1:c.112A>G | XP_011540978.1:p.Ile38Val | |
| XM_011542677.1:c.-27A>G | XP_011540979.1:n.-27A>G | |
| XM_011542678.1:c.-27A>G | XP_011540980.1:n.-27A>G | |
| XM_011542679.1:c.112A>G | XP_011540981.1:p.Ile38Val | |
| XM_011542680.1:c.-190A>G | XP_011540982.1:n.-190A>G | |
| XM_011542681.1:c.112A>G | XP_011540983.1:p.Ile38Val | |
| XM_011542682.1:c.112A>G | XP_011540984.1:p.Ile38Val | |
| XM_011542683.1:c.112A>G | XP_011540985.1:p.Ile38Val | |
| XM_011542685.1:c.112A>G | XP_011540987.1:p.Ile38Val | |
| XM_011542686.1:c.112A>G | XP_011540988.1:p.Ile38Val | |
| XM_011542687.1:c.-27A>G | XP_011540989.1:n.-27A>G | |
| XM_011542689.1:c.112A>G | XP_011540991.1:p.Ile38Val | |
| XM_011542690.1:c.112A>G | XP_011540992.1:p.Ile38Val | |
| XR_428971.2:n.530A>G | ||
| XR_947808.1:n.530A>G | ||
| XR_947809.1:n.530A>G | ||
| XR_947810.1:n.530A>G | ||
| XR_947811.1:n.530A>G | ||
| XM_017017364.1:c.112A>G | XP_016872853.1:p.Ile38Val | |
| XM_017017365.1:c.112A>G | XP_016872854.1:p.Ile38Val | |
| XM_017017366.1:c.112A>G | XP_016872855.1:p.Ile38Val | |
| XM_017017367.1:c.112A>G | XP_016872856.1:p.Ile38Val | |
| XM_017017368.1:c.112A>G | XP_016872857.1:p.Ile38Val | |
| XM_017017369.1:c.112A>G | XP_016872858.1:p.Ile38Val | |
| XM_017017370.1:c.112A>G | XP_016872859.1:p.Ile38Val | |
| XM_017017371.1:c.112A>G | XP_016872860.1:p.Ile38Val | |
| XM_017017372.1:c.112A>G | XP_016872861.1:p.Ile38Val | |
| XM_017017373.2:c.-27A>G | XP_016872862.1:n.-27A>G | |
| XM_017017374.1:c.-27A>G | XP_016872863.1:n.-27A>G | |
| XM_017017375.2:c.-27A>G | XP_016872864.1:n.-27A>G | |
| XM_017017376.1:c.112A>G | XP_016872865.1:p.Ile38Val | |
| XM_017017377.2:c.-190A>G | XP_016872866.1:n.-190A>G | |
| XM_017017378.1:c.112A>G | XP_016872867.1:p.Ile38Val | |
| XM_017017379.1:c.112A>G | XP_016872868.1:p.Ile38Val | |
| XM_017017380.1:c.112A>G | XP_016872869.1:p.Ile38Val | |
| XM_017017381.1:c.112A>G | XP_016872870.1:p.Ile38Val | |
| XM_017017382.1:c.112A>G | XP_016872871.1:p.Ile38Val | |
| XM_017017383.1:c.-27A>G | XP_016872872.1:n.-27A>G | |
| XM_017017384.1:c.-27A>G | XP_016872873.1:n.-27A>G | |
| XM_017017386.1:c.-27A>G | XP_016872875.1:n.-27A>G | |
| XR_001747793.1:n.530A>G | ||
| XR_001747794.1:n.530A>G | ||
| XR_002957132.1:n.530A>G | ||
| XR_002957133.1:n.530A>G | ||
| XR_428971.3:n.530A>G | ||
| NM_014956.5:c.112A>G MANE Select | NP_055771.4:p.Ile38Val | |
| NM_001271933.2:c.112A>G | NP_001258862.1:p.Ile38Val |