Linked Data
dbSNP Id:
rs377433554
ExAC:
18:33694190 T / C
gnomAD v2:
18-33694190-T-C
gnomAD v3:
18-36114227-T-C
gnomAD v4:
18-36114227-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36114227T>C , CM000680.2:g.36114227T>C | GRCh38 |
| NC_000018.9:g.33694190T>C , CM000680.1:g.33694190T>C | GRCh37 |
| NC_000018.8:g.31948188T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269187.10:c.1713A>G MANE Select | ENSP00000269187.4:p.Gln571= | |
| ENST00000269187.9:c.1713A>G | ENSP00000269187.4:p.Gln571= | |
| ENST00000440549.6:c.888A>G | ENSP00000401139.1:p.Gln296= | |
| ENST00000586829.1:c.414A>G | ENSP00000467724.1:p.Gln138= | |
| ENST00000590986.5:c.1713A>G | ENSP00000465915.1:p.Gln571= | |
| NM_001099406.1:c.888A>G | NP_001092876.1:p.Gln296= | |
| NM_012319.3:c.1713A>G | NP_036451.3:p.Gln571= | |
| XM_011525900.1:c.1713A>G | XP_011524202.1:p.Gln571= | |
| XM_011525901.1:c.1713A>G | XP_011524203.1:p.Gln571= | |
| XM_011525900.2:c.1713A>G | XP_011524202.1:p.Gln571= | |
| XM_011525901.2:c.1713A>G | XP_011524203.1:p.Gln571= | |
| NM_012319.4:c.1713A>G MANE Select | NP_036451.4:p.Gln571= | |
| NM_001099406.2:c.888A>G | NP_001092876.1:p.Gln296= |