Linked Data
dbSNP Id:
rs772991221
ExAC:
1:161275812 G / C
gnomAD v2:
1-161275812-G-C
gnomAD v4:
1-161306022-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306022G>C , CM000663.2:g.161306022G>C | GRCh38 |
| NC_000001.10:g.161275812G>C , CM000663.1:g.161275812G>C | GRCh37 |
| NC_000001.9:g.159542436G>C | NCBI36 |
| NG_008055.1:g.8951C>G , LRG_256:g.8951C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.565-45C>G | ENSP00000488104.2:n.565-45C>G | |
| ENST00000533357.5:c.646-45C>G MANE Select | ENSP00000432943.1:n.646-45C>G | |
| ENST00000672287.2:c.58-45C>G | ENSP00000499818.2:n.58-45C>G | |
| ENST00000672602.2:c.646-45C>G | ENSP00000500814.2:n.646-45C>G | |
| ENST00000674861.1:n.709-45C>G | ||
| ENST00000463290.5:c.646-45C>G | ENSP00000431538.1:n.646-45C>G | |
| ENST00000476410.1:n.191C>G | ||
| ENST00000488271.1:n.84-45C>G | ||
| ENST00000491222.5:c.58-45C>G | ENSP00000431441.1:n.58-45C>G | |
| ENST00000526189.2:c.309-45C>G | ||
| ENST00000533357.4:c.646-45C>G | ENSP00000432943.1:n.646-45C>G | |
| NM_000530.6:c.646-45C>G , LRG_256t1:c.646-45C>G | NP_000521.2:n.646-45C>G | |
| NM_000530.7:c.646-45C>G | NP_000521.2:n.646-45C>G | |
| NM_001315491.1:c.646-45C>G | NP_001302420.1:n.646-45C>G | |
| XM_017001321.2:c.675+86C>G | XP_016856810.1:n.675+86C>G | |
| NM_000530.8:c.646-45C>G MANE Select | NP_000521.2:n.646-45C>G | |
| NM_001315491.2:c.646-45C>G | NP_001302420.1:n.646-45C>G |