Linked Data
ClinVar Variation Id:
2270512
ClinVar RCV Id:
RCV004129695
dbSNP Id:
rs370266523
ExAC:
2:138000059 G / A
gnomAD v2:
2-138000059-G-A
gnomAD v3:
2-137242489-G-A
gnomAD v4:
2-137242489-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.137242489G>A , CM000664.2:g.137242489G>A | GRCh38 |
| NC_000002.11:g.138000059G>A , CM000664.1:g.138000059G>A | GRCh37 |
| NC_000002.10:g.137716529G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409968.6:c.2183G>A MANE Select | ENSP00000387145.1:p.Arg728His | |
| ENST00000272643.7:c.2183G>A | ENSP00000272643.4:p.Arg728His | |
| ENST00000409968.5:c.2183G>A | ENSP00000387145.1:p.Arg728His | |
| ENST00000413152.3:c.2090G>A | ENSP00000413841.3:p.Arg697His | |
| NM_001080427.1:c.2090G>A | NP_001073896.1:p.Arg697His | |
| NM_001316349.1:c.2183G>A | NP_001303278.1:p.Arg728His | |
| XM_017005049.1:c.386G>A | XP_016860538.1:p.Arg129His | |
| NM_001316349.2:c.2183G>A MANE Select | NP_001303278.1:p.Arg728His |