Linked Data
ClinVar Variation Id:
1070
dbSNP Id:
rs121918199
ExAC:
16:53720364 G / A
gnomAD v2:
16-53720364-G-A
gnomAD v4:
16-53686452-G-A
PubMed:
PMID:17558409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53686452G>A , CM000678.2:g.53686452G>A | GRCh38 |
| NC_000016.9:g.53720364G>A , CM000678.1:g.53720364G>A | GRCh37 |
| NC_000016.8:g.52277865G>A | NCBI36 |
| NG_008991.2:g.22408C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262135.9:c.757C>T | ENSP00000262135.4:p.Gln253Ter | |
| ENST00000621565.5:c.757C>T | ENSP00000480698.1:p.Gln253Ter | |
| ENST00000647211.2:c.757C>T MANE Select | ENSP00000493946.1:p.Gln253Ter | |
| ENST00000680193.1:c.757C>T | ENSP00000506379.1:p.Gln253Ter | |
| ENST00000680907.1:n.800C>T | ||
| ENST00000262135.8:c.757C>T | ENSP00000262135.4:p.Gln253Ter | |
| ENST00000379925.7:c.757C>T | ENSP00000369257.3:p.Gln253Ter | |
| ENST00000562230.5:c.757C>T | ENSP00000455295.1:p.Gln253Ter | |
| ENST00000563746.5:c.757C>T | ENSP00000457889.1:p.Gln253Ter | |
| ENST00000564374.5:c.757C>T | ENSP00000456534.1:p.Gln253Ter | |
| ENST00000621565.4:c.757C>T | ENSP00000480698.1:p.Gln253Ter | |
| NM_001127897.1:c.757C>T | NP_001121369.1:p.Gln253Ter | |
| NM_001127897.2:c.757C>T | NP_001121369.1:p.Gln253Ter | |
| NM_001308334.1:c.757C>T | NP_001295263.1:p.Gln253Ter | |
| NM_015272.2:c.757C>T | NP_056087.2:p.Gln253Ter | |
| NM_015272.3:c.757C>T | NP_056087.2:p.Gln253Ter | |
| XM_005255867.1:c.757C>T | XP_005255924.1:p.Gln253Ter | |
| XM_005255868.1:c.757C>T | XP_005255925.1:p.Gln253Ter | |
| XM_011522968.1:c.757C>T | XP_011521270.1:p.Gln253Ter | |
| XM_011522969.1:c.757C>T | XP_011521271.1:p.Gln253Ter | |
| XM_011522970.1:c.757C>T | XP_011521272.1:p.Gln253Ter | |
| XM_011522971.1:c.757C>T | XP_011521273.1:p.Gln253Ter | |
| XM_011522972.1:c.757C>T | XP_011521274.1:p.Gln253Ter | |
| XM_011522973.1:c.757C>T | XP_011521275.1:p.Gln253Ter | |
| XR_933260.1:n.789C>T | ||
| NM_001127897.3:c.757C>T | NP_001121369.1:p.Gln253Ter | |
| NM_001308334.2:c.757C>T | NP_001295263.1:p.Gln253Ter | |
| NM_001330538.1:c.757C>T | NP_001317467.1:p.Gln253Ter | |
| NM_015272.4:c.757C>T | NP_056087.2:p.Gln253Ter | |
| XM_005255868.2:c.757C>T | XP_005255925.1:p.Gln253Ter | |
| XM_011522970.2:c.757C>T | XP_011521272.1:p.Gln253Ter | |
| XM_011522971.3:c.757C>T | XP_011521273.1:p.Gln253Ter | |
| XM_011522973.3:c.757C>T | XP_011521275.1:p.Gln253Ter | |
| XM_017023094.2:c.757C>T | XP_016878583.1:p.Gln253Ter | |
| XM_017023095.2:c.757C>T | XP_016878584.1:p.Gln253Ter | |
| XM_017023096.2:c.757C>T | XP_016878585.1:p.Gln253Ter | |
| XM_017023097.2:c.757C>T | XP_016878586.1:p.Gln253Ter | |
| XM_017023100.2:c.757C>T | XP_016878589.1:p.Gln253Ter | |
| XR_933260.3:n.800C>T | ||
| NM_015272.5:c.757C>T MANE Select | NP_056087.2:p.Gln253Ter | |
| NM_001127897.4:c.757C>T | NP_001121369.1:p.Gln253Ter | |
| NM_001330538.2:c.757C>T | NP_001317467.1:p.Gln253Ter | |
| NM_001308334.3:c.757C>T | NP_001295263.1:p.Gln253Ter |