Linked Data
ClinVar Variation Id:
445884
ClinVar RCV Id:
RCV000514886
dbSNP Id:
rs35505100
ExAC:
4:104067195 T / C
gnomAD v2:
4-104067195-T-C
gnomAD v3:
4-103146038-T-C
gnomAD v4:
4-103146038-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103146038T>C , CM000666.2:g.103146038T>C | GRCh38 |
| NC_000004.11:g.104067195T>C , CM000666.1:g.104067195T>C | GRCh37 |
| NC_000004.10:g.104286644T>C | NCBI36 |
| NG_041798.1:g.57372A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265148.9:c.4204A>G MANE Select | ENSP00000265148.3:p.Ile1402Val | |
| ENST00000380026.8:c.4129A>G | ENSP00000369365.3:p.Ile1377Val | |
| ENST00000265148.7:c.4204A>G | ENSP00000265148.3:p.Ile1402Val | |
| ENST00000380026.7:c.4129A>G | ENSP00000369365.3:p.Ile1377Val | |
| ENST00000611174.4:c.4204A>G | ENSP00000483542.1:p.Ile1402Val | |
| NM_001286734.1:c.4129A>G | NP_001273663.1:p.Ile1377Val | |
| NM_001813.2:c.4204A>G | NP_001804.2:p.Ile1402Val | |
| XM_011531544.1:c.4129A>G | XP_011529846.1:p.Ile1377Val | |
| XM_011531545.1:c.4204A>G | XP_011529847.1:p.Ile1402Val | |
| XM_011531546.1:c.4000A>G | XP_011529848.1:p.Ile1334Val | |
| XM_011531547.1:c.4204A>G | XP_011529849.1:p.Ile1402Val | |
| XM_011531548.1:c.4204A>G | XP_011529850.1:p.Ile1402Val | |
| XM_011531549.1:c.4204A>G | XP_011529851.1:p.Ile1402Val | |
| XM_011531544.2:c.4129A>G | XP_011529846.1:p.Ile1377Val | |
| XM_011531545.2:c.4204A>G | XP_011529847.1:p.Ile1402Val | |
| XM_011531546.3:c.4000A>G | XP_011529848.1:p.Ile1334Val | |
| XM_011531547.2:c.4204A>G | XP_011529849.1:p.Ile1402Val | |
| XM_011531548.2:c.4204A>G | XP_011529850.1:p.Ile1402Val | |
| XM_011531549.2:c.4204A>G | XP_011529851.1:p.Ile1402Val | |
| XM_017007659.1:c.4204A>G | XP_016863148.1:p.Ile1402Val | |
| NM_001286734.2:c.4129A>G | NP_001273663.1:p.Ile1377Val | |
| NM_001813.3:c.4204A>G MANE Select | NP_001804.2:p.Ile1402Val |