Linked Data
gnomAD v4:
2-208129497-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129497A>G , CM000664.2:g.208129497A>G | GRCh38 |
| NC_000002.11:g.208994221A>G , CM000664.1:g.208994221A>G | GRCh37 |
| NC_000002.10:g.208702466A>G | NCBI36 |
| NG_008038.1:g.5334T>C | |
| NG_008039.1:g.93T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.196T>C MANE Select | ENSP00000282141.3:p.Tyr66His | |
| ENST00000282141.3:c.196T>C | ENSP00000282141.3:p.Tyr66His | |
| NM_020989.3:c.196T>C | NP_066269.1:p.Tyr66His | |
| NR_038437.1:n.98-7559A>G | ||
| XM_011510661.1:c.196T>C | XP_011508963.1:p.Tyr66His | |
| XM_011510662.1:c.196T>C | XP_011508964.1:p.Tyr66His | |
| XM_011510663.1:c.67T>C | XP_011508965.1:p.Tyr23His | |
| NM_020989.4:c.196T>C MANE Select | NP_066269.1:p.Tyr66His |