Linked Data
dbSNP Id:
rs2147681580
gnomAD v4:
19-17834638-G-A
MyVariant Identifiers:
chr19:g.17945447G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17834638G>A , CM000681.2:g.17834638G>A | GRCh38 |
| NC_000019.9:g.17945447G>A , CM000681.1:g.17945447G>A | GRCh37 |
| NC_000019.8:g.17806447G>A | NCBI36 |
| NG_007273.1:g.18354C>T , LRG_77:g.18354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*840C>T | ENSP00000513006.1:n.*840C>T | |
| ENST00000696967.1:n.1460C>T | ||
| ENST00000696970.1:n.938C>T | ||
| ENST00000458235.7:c.2283C>T MANE Select | ENSP00000391676.1:p.Ala761= | |
| ENST00000458235.5:c.2283C>T | ENSP00000391676.1:p.Ala761= | |
| ENST00000527031.5:n.2278+2089C>T | ||
| ENST00000527670.5:c.2283C>T | ENSP00000432511.1:p.Ala761= | |
| ENST00000534444.1:c.2283C>T | ENSP00000436421.1:p.Ala761= | |
| NM_000215.3:c.2283C>T , LRG_77t1:c.2283C>T | NP_000206.2:p.Ala761= | |
| XM_005259896.2:c.2412C>T | XP_005259953.1:p.Ala804= | |
| XM_006722745.2:c.2283C>T | XP_006722808.1:p.Ala761= | |
| XM_011527990.1:c.2412C>T | XP_011526292.1:p.Ala804= | |
| XR_430137.2:n.2422C>T | ||
| XM_005259896.3:c.2412C>T | XP_005259953.1:p.Ala804= | |
| NM_000215.4:c.2283C>T MANE Select | NP_000206.2:p.Ala761= |