Linked Data
dbSNP Id:
rs762629491
ExAC:
15:75183854 C / A
gnomAD v2:
15-75183854-C-A
gnomAD v4:
15-74891513-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74891513C>A , CM000677.2:g.74891513C>A | GRCh38 |
| NC_000015.9:g.75183854C>A , CM000677.1:g.75183854C>A | GRCh37 |
| NC_000015.8:g.72970907C>A | NCBI36 |
| NG_008921.1:g.6445C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.279C>A MANE Select | ENSP00000318318.6:p.Asn93Lys | |
| ENST00000323744.10:c.279C>A | ENSP00000318192.6:p.Asn93Lys | |
| ENST00000352410.8:c.279C>A | ENSP00000318318.6:p.Asn93Lys | |
| ENST00000535694.5:c.129C>A | ENSP00000440447.1:p.Asn43Lys | |
| ENST00000561470.5:c.*175C>A | ENSP00000454267.1:n.*175C>A | |
| ENST00000562606.5:c.219C>A | ENSP00000457020.1:p.Asn73Lys | |
| ENST00000562800.5:c.255+24C>A | ENSP00000457619.1:n.255+24C>A | |
| ENST00000563422.5:c.279C>A | ENSP00000457885.1:p.Asn93Lys | |
| ENST00000563786.5:c.219C>A | ENSP00000455241.1:p.Asn73Lys | |
| ENST00000564003.5:c.129C>A | ENSP00000454312.1:p.Asn43Lys | |
| ENST00000564633.5:c.219C>A | ENSP00000455383.1:p.Asn73Lys | |
| ENST00000565576.5:c.279C>A | ENSP00000454619.1:p.Asn93Lys | |
| ENST00000566377.5:c.279C>A | ENSP00000455405.1:p.Asn93Lys | |
| ENST00000567116.5:n.310C>A | ||
| ENST00000567132.5:c.279C>A | ENSP00000455972.1:p.Asn93Lys | |
| ENST00000567177.1:c.240C>A | ENSP00000457013.1:p.Asn80Lys | |
| ENST00000567570.5:c.219C>A | ENSP00000455477.1:p.Asn73Lys | |
| ENST00000568828.5:c.243C>A | ENSP00000455065.1:p.Asn81Lys | |
| ENST00000568840.1:n.388C>A | ||
| ENST00000568907.5:c.255+24C>A | ENSP00000457494.1:n.255+24C>A | |
| ENST00000569233.5:c.336C>A | ENSP00000454622.1:p.Asn112Lys | |
| ENST00000569931.5:c.219C>A | ENSP00000455161.1:p.Asn73Lys | |
| NM_001289155.1:c.279C>A | NP_001276084.1:p.Asn93Lys | |
| NM_001289156.1:c.129C>A | NP_001276085.1:p.Asn43Lys | |
| NM_001289157.1:c.279C>A | NP_001276086.1:p.Asn93Lys | |
| NM_002435.2:c.279C>A | NP_002426.1:p.Asn93Lys | |
| XM_011521592.1:c.267C>A | XP_011519894.1:p.Asn89Lys | |
| XM_011521593.1:c.219C>A | XP_011519895.1:p.Asn73Lys | |
| NM_001330372.1:c.219C>A | NP_001317301.1:p.Asn73Lys | |
| XM_017022208.1:c.219C>A | XP_016877697.1:p.Asn73Lys | |
| XM_017022209.2:c.129C>A | XP_016877698.1:p.Asn43Lys | |
| NM_002435.3:c.279C>A MANE Select | NP_002426.1:p.Asn93Lys | |
| NM_001289155.2:c.279C>A | NP_001276084.1:p.Asn93Lys | |
| NM_001289156.2:c.129C>A | NP_001276085.1:p.Asn43Lys | |
| NM_001289157.2:c.279C>A | NP_001276086.1:p.Asn93Lys | |
| NM_001330372.2:c.219C>A | NP_001317301.1:p.Asn73Lys |