ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165924668G>T , CM000664.2:g.165924668G>T | GRCh38 |
| NC_000002.11:g.166781178G>T , CM000664.1:g.166781178G>T | GRCh37 |
| NC_000002.10:g.166489424G>T | NCBI36 |
| NG_030345.1:g.34171C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.1397C>A MANE Select | ENSP00000243344.7:p.Pro466His | |
| ENST00000652557.1:c.1397C>A | ENSP00000498617.1:p.Pro466His | |
| ENST00000679356.1:c.1397C>A | ENSP00000506245.1:p.Pro466His | |
| ENST00000679671.1:n.1510C>A | ||
| ENST00000679676.1:c.1286C>A | ENSP00000505492.1:p.Pro429His | |
| ENST00000679799.1:c.1397C>A | ENSP00000505208.1:p.Pro466His | |
| ENST00000679840.1:c.1397C>A | ENSP00000505248.1:p.Pro466His | |
| ENST00000679931.1:c.*439C>A | ENSP00000505632.1:n.*439C>A | |
| ENST00000679967.1:c.1397C>A | ENSP00000506607.1:p.Pro466His | |
| ENST00000680225.1:n.656C>A | ||
| ENST00000680327.1:c.*439C>A | ENSP00000506639.1:n.*439C>A | |
| ENST00000680448.1:c.1397C>A | ENSP00000505921.1:p.Pro466His | |
| ENST00000680657.1:n.1508C>A | ||
| ENST00000680690.1:c.*649C>A | ENSP00000506121.1:n.*649C>A | |
| ENST00000680888.1:c.1397C>A | ENSP00000506276.1:p.Pro466His | |
| ENST00000680947.1:c.*669C>A | ENSP00000506496.1:n.*669C>A | |
| ENST00000681024.1:c.1397C>A | ENSP00000506449.1:p.Pro466His | |
| ENST00000681083.1:c.*1131C>A | ENSP00000506095.1:n.*1131C>A | |
| ENST00000681167.1:n.1271C>A | ||
| ENST00000681483.1:c.1397C>A | ENSP00000505499.1:p.Pro466His | |
| ENST00000681502.1:c.*821C>A | ENSP00000505644.1:n.*821C>A | |
| ENST00000681606.1:c.1397C>A | ENSP00000505354.1:p.Pro466His | |
| ENST00000681819.1:c.1397C>A | ENSP00000505673.1:p.Pro466His | |
| ENST00000681952.1:c.1397C>A | ENSP00000506400.1:p.Pro466His | |
| ENST00000243344.7:c.1397C>A | ENSP00000243344.7:p.Pro466His | |
| NM_024753.4:c.1397C>A | NP_079029.3:p.Pro466His | |
| XM_006712761.1:c.1397C>A | XP_006712824.1:p.Pro466His | |
| XM_011511870.1:c.830C>A | XP_011510172.1:p.Pro277His | |
| XM_011511871.1:c.647C>A | XP_011510173.1:p.Pro216His | |
| XM_011511872.1:c.1397C>A | XP_011510174.1:p.Pro466His | |
| XM_011511871.3:c.647C>A | XP_011510173.1:p.Pro216His | |
| XM_011511872.2:c.1397C>A | XP_011510174.1:p.Pro466His | |
| XM_017004967.1:c.1397C>A | XP_016860456.1:p.Pro466His | |
| XM_017004968.2:c.743C>A | XP_016860457.1:p.Pro248His | |
| XM_017004969.1:c.398C>A | XP_016860458.1:p.Pro133His | |
| NM_024753.5:c.1397C>A MANE Select | NP_079029.3:p.Pro466His |