Linked Data
dbSNP Id:
rs769373113
ExAC:
16:56385406 G / A
gnomAD v2:
16-56385406-G-A
gnomAD v4:
16-56351494-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56351494G>A , CM000678.2:g.56351494G>A | GRCh38 |
| NC_000016.9:g.56385406G>A , CM000678.1:g.56385406G>A | GRCh37 |
| NC_000016.8:g.54942907G>A | NCBI36 |
| NG_042800.1:g.165156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262493.12:c.834G>A MANE Select | ENSP00000262493.6:p.Lys278= | |
| ENST00000562316.6:c.501G>A | ENSP00000457238.2:p.Lys167= | |
| ENST00000564727.2:c.138G>A | ENSP00000454971.2:p.Lys46= | |
| ENST00000568375.2:c.116-3372G>A | ||
| ENST00000638185.1:n.1049G>A | ||
| ENST00000638210.1:n.1134G>A | ||
| ENST00000638705.1:c.834G>A | ENSP00000491223.1:p.Lys278= | |
| ENST00000638836.1:n.744G>A | ||
| ENST00000639055.1:n.1555G>A | ||
| ENST00000639251.1:n.735G>A | ||
| ENST00000639268.1:c.469G>A | ||
| ENST00000639341.1:c.359G>A | ||
| ENST00000639770.1:c.872G>A | ENSP00000491999.1:n.872G>A | |
| ENST00000640390.1:n.764G>A | ||
| ENST00000640469.1:c.198G>A | ENSP00000491875.1:p.Lys66= | |
| ENST00000640560.1:n.610G>A | ||
| ENST00000640893.1:c.*232G>A | ENSP00000492677.1:n.*232G>A | |
| ENST00000262493.10:c.834G>A | ENSP00000262493.6:p.Lys278= | |
| ENST00000564727.1:c.54G>A | ENSP00000454971.1:p.Lys18= | |
| ENST00000568375.1:n.116-3372G>A | ||
| NM_020988.2:c.834G>A | NP_066268.1:p.Lys278= | |
| XM_011523003.1:c.708G>A | XP_011521305.1:p.Lys236= | |
| XM_011523003.3:c.708G>A | XP_011521305.1:p.Lys236= | |
| NM_020988.3:c.834G>A MANE Select | NP_066268.1:p.Lys278= |