Linked Data
dbSNP Id:
rs769427203
ExAC:
21:38437896 A / G
gnomAD v2:
21-38437896-A-G
gnomAD v3:
21-37065596-A-G
gnomAD v4:
21-37065596-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37065596A>G , CM000683.2:g.37065596A>G | GRCh38 |
| NC_000021.8:g.38437896A>G , CM000683.1:g.38437896A>G | GRCh37 |
| NC_000021.7:g.37359766A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360525.9:c.391T>C MANE Select | ENSP00000353719.3:p.Tyr131His | |
| ENST00000329667.7:n.340T>C | ||
| ENST00000360525.8:c.391T>C | ENSP00000353719.3:p.Tyr131His | |
| ENST00000399098.5:c.313T>C | ENSP00000382049.1:p.Tyr105His | |
| ENST00000399102.5:c.391T>C | ENSP00000382053.1:p.Tyr131His | |
| ENST00000399103.5:c.391T>C | ENSP00000382054.1:p.Tyr131His | |
| ENST00000464265.5:c.463T>C | ENSP00000420037.1:p.Tyr155His | |
| NM_153681.2:c.463T>C | NP_710148.1:p.Tyr155His | |
| NM_153682.2:c.391T>C | NP_710149.1:p.Tyr131His | |
| NR_028352.1:n.738T>C | ||
| XM_005260990.3:c.391T>C | XP_005261047.1:p.Tyr131His | |
| XM_011529595.1:c.391T>C | XP_011527897.1:p.Tyr131His | |
| XM_011529596.1:c.391T>C | XP_011527898.1:p.Tyr131His | |
| NM_001320480.1:c.391T>C | NP_001307409.1:p.Tyr131His | |
| NM_016430.3:c.313T>C | NP_057514.2:p.Tyr105His | |
| XM_017028365.1:c.313T>C | XP_016883854.1:p.Tyr105His | |
| NM_001320480.2:c.391T>C | NP_001307409.1:p.Tyr131His | |
| NM_016430.4:c.313T>C | NP_057514.2:p.Tyr105His | |
| NM_153682.3:c.391T>C MANE Select | NP_710149.1:p.Tyr131His |