Linked Data
dbSNP Id:
rs267598242
ExAC:
1:186925358 G / C
gnomAD v2:
1-186925358-G-C
gnomAD v4:
1-186956226-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186956226G>C , CM000663.2:g.186956226G>C | GRCh38 |
| NC_000001.10:g.186925358G>C , CM000663.1:g.186925358G>C | GRCh37 |
| NC_000001.9:g.185191981G>C | NCBI36 |
| NG_012203.1:g.132327G>C | |
| NG_012203.2:g.132327G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367466.4:c.1461G>C MANE Select | ENSP00000356436.3:p.Gly487= | |
| ENST00000367466.3:c.1461G>C | ENSP00000356436.3:p.Gly487= | |
| NM_001311193.1:c.1281G>C | NP_001298122.1:p.Gly427= | |
| NM_024420.2:c.1461G>C | NP_077734.1:p.Gly487= | |
| XM_005245267.2:c.1350G>C | XP_005245324.1:p.Gly450= | |
| XM_011509641.1:c.1482G>C | XP_011507943.1:p.Gly494= | |
| XM_011509642.1:c.1461G>C | XP_011507944.1:p.Gly487= | |
| XM_011509643.1:c.1461G>C | XP_011507945.1:p.Gly487= | |
| XR_921838.1:n.1477+45G>C | ||
| XM_005245267.4:c.1476G>C | XP_005245324.2:p.Gly492= | |
| XM_011509642.2:c.1461G>C | XP_011507944.1:p.Gly487= | |
| NM_001311193.2:c.1281G>C | NP_001298122.2:p.Gly427= | |
| NM_024420.3:c.1461G>C MANE Select | NP_077734.2:p.Gly487= |