Linked Data
ClinVar Variation Id:
370355
ClinVar RCV Id:
RCV000410869
dbSNP Id:
rs1057516424
gnomAD v3:
15-74893302-A-T
gnomAD v4:
15-74893302-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74893302A>T , CM000677.2:g.74893302A>T | GRCh38 |
| NC_000015.9:g.75185643A>T , CM000677.1:g.75185643A>T | GRCh37 |
| NC_000015.8:g.72972696A>T | NCBI36 |
| NG_008921.1:g.8234A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352410.9:c.652A>T MANE Select | ENSP00000318318.6:p.Lys218Ter | |
| ENST00000323744.10:c.487+500A>T | ENSP00000318192.6:n.487+500A>T | |
| ENST00000352410.8:c.652A>T | ENSP00000318318.6:p.Lys218Ter | |
| ENST00000535694.5:c.502A>T | ENSP00000440447.1:p.Lys168Ter | |
| ENST00000561470.5:c.*548A>T | ENSP00000454267.1:n.*548A>T | |
| ENST00000562606.5:c.592A>T | ENSP00000457020.1:p.Lys198Ter | |
| ENST00000562800.5:c.255+1813A>T | ENSP00000457619.1:n.255+1813A>T | |
| ENST00000563422.5:c.652A>T | ENSP00000457885.1:p.Lys218Ter | |
| ENST00000563786.5:c.592A>T | ENSP00000455241.1:p.Lys198Ter | |
| ENST00000564003.5:c.337+500A>T | ENSP00000454312.1:n.337+500A>T | |
| ENST00000565576.5:c.652A>T | ENSP00000454619.1:p.Lys218Ter | |
| ENST00000566377.5:c.652A>T | ENSP00000455405.1:p.Lys218Ter | |
| ENST00000567177.1:c.448+500A>T | ENSP00000457013.1:n.448+500A>T | |
| ENST00000569931.5:c.592A>T | ENSP00000455161.1:p.Lys198Ter | |
| NM_001289155.1:c.652A>T | NP_001276084.1:p.Lys218Ter | |
| NM_001289156.1:c.502A>T | NP_001276085.1:p.Lys168Ter | |
| NM_001289157.1:c.487+500A>T | NP_001276086.1:n.487+500A>T | |
| NM_002435.2:c.652A>T | NP_002426.1:p.Lys218Ter | |
| XM_011521592.1:c.640A>T | XP_011519894.1:p.Lys214Ter | |
| XM_011521593.1:c.592A>T | XP_011519895.1:p.Lys198Ter | |
| NM_001330372.1:c.592A>T | NP_001317301.1:p.Lys198Ter | |
| XM_017022208.1:c.592A>T | XP_016877697.1:p.Lys198Ter | |
| XM_017022209.2:c.502A>T | XP_016877698.1:p.Lys168Ter | |
| NM_002435.3:c.652A>T MANE Select | NP_002426.1:p.Lys218Ter | |
| NM_001289155.2:c.652A>T | NP_001276084.1:p.Lys218Ter | |
| NM_001289156.2:c.502A>T | NP_001276085.1:p.Lys168Ter | |
| NM_001289157.2:c.487+500A>T | NP_001276086.1:n.487+500A>T | |
| NM_001330372.2:c.592A>T | NP_001317301.1:p.Lys198Ter |