Linked Data
dbSNP Id:
rs776818376
ExAC:
1:161275720 A / C
gnomAD v2:
1-161275720-A-C
gnomAD v4:
1-161305930-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161305930A>C , CM000663.2:g.161305930A>C | GRCh38 |
| NC_000001.10:g.161275720A>C , CM000663.1:g.161275720A>C | GRCh37 |
| NC_000001.9:g.159542344A>C | NCBI36 |
| NG_008055.1:g.9043T>G , LRG_256:g.9043T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.612T>G | ENSP00000488104.2:p.Ala204= | |
| ENST00000533357.5:c.693T>G MANE Select | ENSP00000432943.1:p.Ala231= | |
| ENST00000672287.2:c.105T>G | ENSP00000499818.2:p.Ala35= | |
| ENST00000672602.2:c.693T>G | ENSP00000500814.2:p.Ala231= | |
| ENST00000674861.1:n.756T>G | ||
| ENST00000463290.5:c.693T>G | ENSP00000431538.1:p.Ala231= | |
| ENST00000476410.1:n.283T>G | ||
| ENST00000488271.1:n.131T>G | ||
| ENST00000491222.5:c.105T>G | ENSP00000431441.1:p.Ala35= | |
| ENST00000526189.2:c.356T>G | ||
| ENST00000533357.4:c.693T>G | ENSP00000432943.1:p.Ala231= | |
| NM_000530.6:c.693T>G , LRG_256t1:c.693T>G | NP_000521.2:p.Ala231= | |
| NM_000530.7:c.693T>G | NP_000521.2:p.Ala231= | |
| NM_001315491.1:c.693T>G | NP_001302420.1:p.Ala231= | |
| XM_017001321.2:c.675+178T>G | XP_016856810.1:n.675+178T>G | |
| NM_000530.8:c.693T>G MANE Select | NP_000521.2:p.Ala231= | |
| NM_001315491.2:c.693T>G | NP_001302420.1:p.Ala231= |