Linked Data
ClinVar Variation Id:
225960
ClinVar RCV Id:
RCV000835202
dbSNP Id:
rs17708472
gnomAD v2:
16-31105353-G-A
gnomAD v3:
16-31094032-G-A
gnomAD v4:
16-31094032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31094032G>A , CM000678.2:g.31094032G>A | GRCh38 |
| NC_000016.9:g.31105353G>A , CM000678.1:g.31105353G>A | GRCh37 |
| NC_000016.8:g.31012854G>A | NCBI36 |
| NG_011564.1:g.5924C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394975.3:c.173+525C>T MANE Select | ENSP00000378426.2:n.173+525C>T | |
| ENST00000300851.10:c.173+525C>T | ENSP00000300851.6:n.173+525C>T | |
| ENST00000319788.11:c.173+525C>T | ENSP00000326135.7:n.173+525C>T | |
| ENST00000354895.4:c.173+525C>T | ENSP00000346969.4:n.173+525C>T | |
| ENST00000394971.7:c.267+203C>T | ENSP00000378422.3:n.267+203C>T | |
| ENST00000394975.2:c.173+525C>T | ENSP00000378426.2:n.173+525C>T | |
| ENST00000420057.2:c.245+1357C>T | ||
| ENST00000498155.1:c.271-611C>T | ENSP00000417662.1:n.271-611C>T | |
| ENST00000529564.1:c.173+525C>T | ENSP00000431371.1:n.173+525C>T | |
| ENST00000532364.1:c.173+525C>T | ENSP00000460316.1:n.173+525C>T | |
| ENST00000533518.5:c.46+525C>T | ||
| NM_001311311.1:c.173+525C>T | NP_001298240.1:n.173+525C>T | |
| NM_024006.4:c.173+525C>T | NP_076869.1:n.173+525C>T | |
| NM_024006.5:c.173+525C>T | NP_076869.1:n.173+525C>T | |
| NM_206824.1:c.173+525C>T | NP_996560.1:n.173+525C>T | |
| NM_206824.2:c.173+525C>T | NP_996560.1:n.173+525C>T | |
| XM_011545944.1:c.173+525C>T | XP_011544246.1:n.173+525C>T | |
| XM_011545945.1:c.173+525C>T | XP_011544247.1:n.173+525C>T | |
| XR_950848.1:n.961+525C>T | ||
| NM_024006.6:c.173+525C>T MANE Select | NP_076869.1:n.173+525C>T | |
| NM_001311311.2:c.173+525C>T | NP_001298240.1:n.173+525C>T | |
| NM_206824.3:c.173+525C>T | NP_996560.1:n.173+525C>T |