Linked Data
gnomAD v4:
2-208129494-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129494G>T , CM000664.2:g.208129494G>T | GRCh38 |
| NC_000002.11:g.208994218G>T , CM000664.1:g.208994218G>T | GRCh37 |
| NC_000002.10:g.208702463G>T | NCBI36 |
| NG_008038.1:g.5337C>A | |
| NG_008039.1:g.96C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.199C>A MANE Select | ENSP00000282141.3:p.Gln67Lys | |
| ENST00000282141.3:c.199C>A | ENSP00000282141.3:p.Gln67Lys | |
| NM_020989.3:c.199C>A | NP_066269.1:p.Gln67Lys | |
| NR_038437.1:n.98-7562G>T | ||
| XM_011510661.1:c.199C>A | XP_011508963.1:p.Gln67Lys | |
| XM_011510662.1:c.199C>A | XP_011508964.1:p.Gln67Lys | |
| XM_011510663.1:c.70C>A | XP_011508965.1:p.Gln24Lys | |
| NM_020989.4:c.199C>A MANE Select | NP_066269.1:p.Gln67Lys |