Linked Data
dbSNP Id:
rs746899193
ExAC:
8:87656028 A / G
gnomAD v2:
8-87656028-A-G
gnomAD v4:
8-86643800-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643800A>G , CM000670.2:g.86643800A>G | GRCh38 |
| NC_000008.10:g.87656028A>G , CM000670.1:g.87656028A>G | GRCh37 |
| NC_000008.9:g.87725144A>G | NCBI36 |
| NG_016980.1:g.104876T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1129T>C MANE Select | ENSP00000316605.5:p.Tyr377His | |
| ENST00000681546.1:n.949T>C | ||
| ENST00000681746.1:c.1129T>C | ENSP00000505959.1:p.Tyr377His | |
| ENST00000320005.5:c.1129T>C | ENSP00000316605.5:p.Tyr377His | |
| NM_019098.4:c.1129T>C | NP_061971.3:p.Tyr377His | |
| XM_011517138.1:c.715T>C | XP_011515440.1:p.Tyr239His | |
| XM_011517138.2:c.715T>C | XP_011515440.1:p.Tyr239His | |
| NM_019098.5:c.1129T>C MANE Select | NP_061971.3:p.Tyr377His |