Linked Data
ClinVar Variation Id:
260607
dbSNP Id:
rs886038619
ExAC:
16:53653102 T / G
gnomAD v2:
16-53653102-T-G
gnomAD v3:
16-53619190-T-G
gnomAD v4:
16-53619190-T-G
MyVariant Identifiers:
chr16:g.53653102T>G (hg19)
chr16:g.53653102_53653106delinsGCCGA (hg19)
chr16:g.53619190T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53619190T>G , CM000678.2:g.53619190T>G | GRCh38 |
| NC_000016.9:g.53653102T>G , CM000678.1:g.53653102T>G | GRCh37 |
| NC_000016.8:g.52210603T>G | NCBI36 |
| NG_008991.2:g.89670A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.3211A>C | ENSP00000262135.4:p.Ile1071Leu | |
| ENST00000565343.2:n.3875A>C | ||
| ENST00000621565.5:c.3313A>C | ENSP00000480698.1:p.Ile1105Leu | |
| ENST00000647211.2:c.3451A>C MANE Select | ENSP00000493946.1:p.Ile1151Leu | |
| ENST00000680193.1:c.*211A>C | ENSP00000506379.1:n.*211A>C | |
| ENST00000681587.1:n.1223A>C | ||
| ENST00000262135.8:c.3211A>C | ENSP00000262135.4:p.Ile1071Leu | |
| ENST00000379925.7:c.3451A>C | ENSP00000369257.3:p.Ile1151Leu | |
| ENST00000563746.5:c.3349A>C | ENSP00000457889.1:p.Ile1117Leu | |
| ENST00000564374.5:c.3313A>C | ENSP00000456534.1:p.Ile1105Leu | |
| ENST00000621565.4:c.3313A>C | ENSP00000480698.1:p.Ile1105Leu | |
| NM_001127897.1:c.3211A>C | NP_001121369.1:p.Ile1071Leu | |
| NM_001127897.2:c.3211A>C | NP_001121369.1:p.Ile1071Leu | |
| NM_001308334.1:c.3313A>C | NP_001295263.1:p.Ile1105Leu | |
| NM_015272.2:c.3451A>C | NP_056087.2:p.Ile1151Leu | |
| NM_015272.3:c.3451A>C | NP_056087.2:p.Ile1151Leu | |
| XM_005255867.1:c.3349A>C | XP_005255924.1:p.Ile1117Leu | |
| XM_005255868.1:c.3325A>C | XP_005255925.1:p.Ile1109Leu | |
| XM_005255871.2:c.1558A>C | XP_005255928.1:p.Ile520Leu | |
| XM_011522968.1:c.3451A>C | XP_011521270.1:p.Ile1151Leu | |
| XM_011522969.1:c.3325A>C | XP_011521271.1:p.Ile1109Leu | |
| XM_011522974.1:c.1558A>C | XP_011521276.1:p.Ile520Leu | |
| XR_933260.1:n.3357A>C | ||
| NM_001127897.3:c.3211A>C | NP_001121369.1:p.Ile1071Leu | |
| NM_001308334.2:c.3313A>C | NP_001295263.1:p.Ile1105Leu | |
| NM_001330538.1:c.3349A>C | NP_001317467.1:p.Ile1117Leu | |
| NM_015272.4:c.3451A>C | NP_056087.2:p.Ile1151Leu | |
| XM_005255868.2:c.3325A>C | XP_005255925.1:p.Ile1109Leu | |
| XM_017023094.2:c.3463A>C | XP_016878583.1:p.Ile1155Leu | |
| XM_017023095.2:c.3223A>C | XP_016878584.1:p.Ile1075Leu | |
| XM_017023096.2:c.3325A>C | XP_016878585.1:p.Ile1109Leu | |
| XM_017023098.1:c.1696A>C | XP_016878587.1:p.Ile566Leu | |
| XM_017023099.1:c.1696A>C | XP_016878588.1:p.Ile566Leu | |
| XR_933260.3:n.3368A>C | ||
| NM_015272.5:c.3451A>C MANE Select | NP_056087.2:p.Ile1151Leu | |
| NM_001127897.4:c.3211A>C | NP_001121369.1:p.Ile1071Leu | |
| NM_001330538.2:c.3349A>C | NP_001317467.1:p.Ile1117Leu | |
| NM_001308334.3:c.3313A>C | NP_001295263.1:p.Ile1105Leu |