Linked Data
ClinVar Variation Id:
225983
ClinVar RCV Id:
RCV000211273
dbSNP Id:
rs2884737
ExAC:
16:31105554 A / C
gnomAD v2:
16-31105554-A-C
gnomAD v3:
16-31094233-A-C
gnomAD v4:
16-31094233-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31094233A>C , CM000678.2:g.31094233A>C | GRCh38 |
| NC_000016.9:g.31105554A>C , CM000678.1:g.31105554A>C | GRCh37 |
| NC_000016.8:g.31013055A>C | NCBI36 |
| NG_011564.1:g.5723T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394975.3:c.173+324T>G MANE Select | ENSP00000378426.2:n.173+324T>G | |
| ENST00000300851.10:c.173+324T>G | ENSP00000300851.6:n.173+324T>G | |
| ENST00000319788.11:c.173+324T>G | ENSP00000326135.7:n.173+324T>G | |
| ENST00000354895.4:c.173+324T>G | ENSP00000346969.4:n.173+324T>G | |
| ENST00000394971.7:c.267+2T>G | ENSP00000378422.3:n.267+2T>G | |
| ENST00000394975.2:c.173+324T>G | ENSP00000378426.2:n.173+324T>G | |
| ENST00000420057.2:c.245+1156T>G | ||
| ENST00000498155.1:c.271-812T>G | ENSP00000417662.1:n.271-812T>G | |
| ENST00000529564.1:c.173+324T>G | ENSP00000431371.1:n.173+324T>G | |
| ENST00000532364.1:c.173+324T>G | ENSP00000460316.1:n.173+324T>G | |
| ENST00000533518.5:c.46+324T>G | ||
| NM_001311311.1:c.173+324T>G | NP_001298240.1:n.173+324T>G | |
| NM_024006.4:c.173+324T>G | NP_076869.1:n.173+324T>G | |
| NM_024006.5:c.173+324T>G | NP_076869.1:n.173+324T>G | |
| NM_206824.1:c.173+324T>G | NP_996560.1:n.173+324T>G | |
| NM_206824.2:c.173+324T>G | NP_996560.1:n.173+324T>G | |
| XM_011545944.1:c.173+324T>G | XP_011544246.1:n.173+324T>G | |
| XM_011545945.1:c.173+324T>G | XP_011544247.1:n.173+324T>G | |
| XR_950848.1:n.961+324T>G | ||
| NM_024006.6:c.173+324T>G MANE Select | NP_076869.1:n.173+324T>G | |
| NM_001311311.2:c.173+324T>G | NP_001298240.1:n.173+324T>G | |
| NM_206824.3:c.173+324T>G | NP_996560.1:n.173+324T>G |