Linked Data
ClinVar Variation Id:
38974
dbSNP Id:
rs281865486
gnomAD v2:
16-66582904-G-A
gnomAD v3:
16-66549001-G-A
gnomAD v4:
16-66549001-G-A
MyVariant Identifiers:
chr16:g.66582904G>A (hg19)
chr16:g.66582904_66582908delinsATTCT (hg19)
chr16:g.66549001G>A (hg38)
PubMed:
PMID:23230576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66549001G>A , CM000678.2:g.66549001G>A | GRCh38 |
| NC_000016.9:g.66582904G>A , CM000678.1:g.66582904G>A | GRCh37 |
| NC_000016.8:g.65140405G>A | NCBI36 |
| NG_016862.1:g.6412C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299697.12:c.40C>T | ENSP00000299697.9:p.Gln14Ter | |
| ENST00000417693.8:c.133C>T | ENSP00000407469.5:p.Gln45Ter | |
| ENST00000451102.7:c.40C>T | ENSP00000414334.4:p.Gln14Ter | |
| ENST00000527284.6:c.77C>T | ||
| ENST00000527800.6:c.-159C>T | ENSP00000433770.1:n.-159C>T | |
| ENST00000544898.6:c.133C>T MANE Select | ENSP00000440898.2:p.Gln45Ter | |
| ENST00000567357.6:c.133C>T | ENSP00000457959.2:p.Gln45Ter | |
| ENST00000569718.6:c.40C>T | ENSP00000464313.2:p.Gln14Ter | |
| ENST00000620035.5:c.133C>T | ENSP00000483833.2:p.Gln45Ter | |
| ENST00000676536.1:c.9C>T | ||
| ENST00000676538.1:c.9C>T | ||
| ENST00000677124.1:n.9C>T | ||
| ENST00000677412.1:c.9C>T | ||
| ENST00000677420.1:c.-105C>T | ENSP00000504648.1:n.-105C>T | |
| ENST00000677541.1:c.9C>T | ||
| ENST00000677555.1:c.-84C>T | ENSP00000503331.1:n.-84C>T | |
| ENST00000677715.1:c.-159C>T | ENSP00000502950.1:n.-159C>T | |
| ENST00000678015.1:c.-159C>T | ENSP00000502959.1:n.-159C>T | |
| ENST00000678205.1:c.9C>T | ||
| ENST00000678297.1:c.-84C>T | ENSP00000503472.1:n.-84C>T | |
| ENST00000678314.1:c.-61+2539C>T | ENSP00000504438.1:n.-61+2539C>T | |
| ENST00000679154.1:c.9C>T | ||
| ENST00000679271.1:n.39C>T | ||
| ENST00000679327.1:n.1104C>T | ||
| ENST00000299697.11:c.133C>T | ENSP00000299697.8:p.Gln45Ter | |
| ENST00000417693.7:c.259C>T | ENSP00000407469.4:p.Gln87Ter | |
| ENST00000451102.6:c.259C>T | ENSP00000414334.3:p.Gln87Ter | |
| ENST00000525974.5:c.-159C>T | ENSP00000434594.1:n.-159C>T | |
| ENST00000527284.5:c.40C>T | ENSP00000435312.1:p.Gln14Ter | |
| ENST00000527800.5:c.-159C>T | ENSP00000433770.1:n.-159C>T | |
| ENST00000544898.5:c.133C>T | ENSP00000440898.2:p.Gln45Ter | |
| ENST00000545043.6:c.133C>T | ENSP00000438143.2:p.Gln45Ter | |
| ENST00000562484.2:c.-159C>T | ENSP00000463326.1:n.-159C>T | |
| ENST00000563369.6:c.-159C>T | ENSP00000463560.1:n.-159C>T | |
| ENST00000563478.5:c.-159C>T | ENSP00000462341.1:n.-159C>T | |
| ENST00000564917.5:c.133C>T | ENSP00000455187.1:p.Gln45Ter | |
| ENST00000567357.5:c.259C>T | ENSP00000457959.1:p.Gln87Ter | |
| ENST00000569718.5:c.27C>T | ||
| ENST00000620035.4:c.133C>T | ENSP00000483833.1:p.Gln45Ter | |
| NM_001172643.1:c.40C>T | NP_001166114.1:p.Gln14Ter | |
| NM_001172644.1:c.133C>T | NP_001166115.1:p.Gln45Ter | |
| NM_001172645.1:c.133C>T | NP_001166116.1:p.Gln45Ter | |
| NM_001271934.1:c.-110C>T | NP_001258863.1:n.-110C>T | |
| NM_001271935.1:c.40C>T | NP_001258864.1:p.Gln14Ter | |
| NM_001272050.1:c.-159C>T | NP_001258979.1:n.-159C>T | |
| NM_004614.4:c.133C>T | NP_004605.4:p.Gln45Ter | |
| NR_073520.1:n.1412C>T | ||
| NM_001172644.2:c.133C>T | NP_001166115.1:p.Gln45Ter | |
| NM_001271934.2:c.-110C>T | NP_001258863.1:n.-110C>T | |
| NM_001272050.2:c.-159C>T | NP_001258979.1:n.-159C>T | |
| NM_004614.5:c.133C>T MANE Select | NP_004605.4:p.Gln45Ter | |
| NR_073520.2:n.1122C>T | ||
| NM_001172645.2:c.133C>T | NP_001166116.1:p.Gln45Ter |