Linked Data
ClinVar Variation Id:
2210
ClinVar RCV Id:
RCV000002294
dbSNP Id:
rs104894542
gnomAD v3:
16-31091243-A-C
gnomAD v4:
16-31091243-A-C
PubMed:
PMID:14765194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31091243A>C , CM000678.2:g.31091243A>C | GRCh38 |
| NC_000016.9:g.31102564A>C , CM000678.1:g.31102564A>C | GRCh37 |
| NC_000016.8:g.31010065A>C | NCBI36 |
| NG_011564.1:g.8713T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394975.3:c.383T>G MANE Select | ENSP00000378426.2:p.Leu128Arg | |
| ENST00000300851.10:c.444T>G | ENSP00000300851.6:p.Ala148= | |
| ENST00000319788.11:c.465T>G | ENSP00000326135.7:p.Ala155= | |
| ENST00000354895.4:c.273T>G | ENSP00000346969.4:p.Ala91= | |
| ENST00000394971.7:c.477T>G | ENSP00000378422.3:p.Ala159= | |
| ENST00000394975.2:c.383T>G | ENSP00000378426.2:p.Leu128Arg | |
| ENST00000420057.2:c.345T>G | ||
| ENST00000472468.1:c.68T>G | ENSP00000458994.1:p.Leu23Arg | |
| ENST00000498155.1:c.480T>G | ENSP00000417662.1:p.Ala160= | |
| ENST00000529564.1:c.283+2069T>G | ENSP00000431371.1:n.283+2069T>G | |
| ENST00000532364.1:c.173+3314T>G | ENSP00000460316.1:n.173+3314T>G | |
| ENST00000533518.5:c.256T>G | ||
| NM_001311311.1:c.467T>G | NP_001298240.1:p.Leu156Arg | |
| NM_024006.4:c.383T>G | NP_076869.1:p.Leu128Arg | |
| NM_024006.5:c.383T>G | NP_076869.1:p.Leu128Arg | |
| NM_206824.1:c.273T>G | NP_996560.1:p.Ala91= | |
| NM_206824.2:c.273T>G | NP_996560.1:p.Ala91= | |
| XM_011545944.1:c.383T>G | XP_011544246.1:p.Leu128Arg | |
| XM_011545945.1:c.273T>G | XP_011544247.1:p.Ala91= | |
| XR_950848.1:n.1171T>G | ||
| NM_024006.6:c.383T>G MANE Select | NP_076869.1:p.Leu128Arg | |
| NM_001311311.2:c.467T>G | NP_001298240.1:p.Leu156Arg | |
| NM_206824.3:c.273T>G | NP_996560.1:p.Ala91= |