Linked Data
dbSNP Id:
rs757635332
ExAC:
16:5078938 C / A
gnomAD v2:
16-5078938-C-A
gnomAD v3:
16-5028937-C-A
gnomAD v4:
16-5028937-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5028937C>A , CM000678.2:g.5028937C>A | GRCh38 |
| NC_000016.9:g.5078938C>A , CM000678.1:g.5078938C>A | GRCh37 |
| NC_000016.8:g.5018939C>A | NCBI36 |
| NG_028152.1:g.10005G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.863G>T MANE Select | ENSP00000310998.3:p.Gly288Val | |
| ENST00000649828.1:c.863G>T | ENSP00000498032.1:p.Gly288Val | |
| ENST00000312251.7:c.863G>T | ENSP00000310998.3:p.Gly288Val | |
| ENST00000381955.7:c.863G>T | ENSP00000371381.3:p.Gly288Val | |
| ENST00000562346.2:c.505-752G>T | ||
| ENST00000562746.5:c.863G>T | ENSP00000455900.1:p.Gly288Val | |
| ENST00000563578.5:c.681G>T | ||
| ENST00000564397.5:n.1222G>T | ||
| ENST00000565876.5:c.480+1448G>T | ||
| ENST00000567739.5:n.182G>T | ||
| ENST00000568202.5:n.726G>T | ||
| ENST00000569296.5:c.407G>T | ENSP00000465949.1:p.Gly136Val | |
| NM_016256.3:c.863G>T | NP_057340.2:p.Gly288Val | |
| XM_011522517.1:c.863G>T | XP_011520819.1:p.Gly288Val | |
| XM_011522518.1:c.863G>T | XP_011520820.1:p.Gly288Val | |
| XM_011522519.1:c.863G>T | XP_011520821.1:p.Gly288Val | |
| XR_243285.1:n.890G>T | ||
| XM_011522517.3:c.863G>T | XP_011520819.1:p.Gly288Val | |
| XR_001751908.2:n.889G>T | ||
| XR_001751909.2:n.889G>T | ||
| XR_001751910.2:n.889G>T | ||
| XR_001751911.2:n.889G>T | ||
| XR_001751912.2:n.889G>T | ||
| NM_016256.4:c.863G>T MANE Select | NP_057340.2:p.Gly288Val |