Linked Data
dbSNP Id:
rs748386062
ExAC:
19:17940864 A / G
gnomAD v2:
19-17940864-A-G
gnomAD v3:
19-17830055-A-G
gnomAD v4:
19-17830055-A-G
MyVariant Identifiers:
chr19:g.17940864A>G (hg19)
chr19:g.17940864_17940865delinsGC (hg19)
chr19:g.17830055A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17830055A>G , CM000681.2:g.17830055A>G | GRCh38 |
| NC_000019.9:g.17940864A>G , CM000681.1:g.17940864A>G | GRCh37 |
| NC_000019.8:g.17801864A>G | NCBI36 |
| NG_007273.1:g.22937T>C , LRG_77:g.22937T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1764+53T>C | ENSP00000513006.1:n.*1764+53T>C | |
| ENST00000696967.1:n.2384+53T>C | ||
| ENST00000696968.1:n.440+53T>C | ||
| ENST00000696969.1:n.2164+53T>C | ||
| ENST00000458235.7:c.3207+53T>C MANE Select | ENSP00000391676.1:n.3207+53T>C | |
| ENST00000458235.5:c.3207+53T>C | ENSP00000391676.1:n.3207+53T>C | |
| ENST00000527031.5:n.2279-4745T>C | ||
| ENST00000527670.5:c.3207+53T>C | ENSP00000432511.1:n.3207+53T>C | |
| ENST00000534444.1:c.3260T>C | ENSP00000436421.1:p.Val1087Ala | |
| NM_000215.3:c.3207+53T>C , LRG_77t1:c.3207+53T>C | NP_000206.2:n.3207+53T>C | |
| XM_005259896.2:c.3336+53T>C | XP_005259953.1:n.3336+53T>C | |
| XM_006722745.2:c.3207+53T>C | XP_006722808.1:n.3207+53T>C | |
| XM_005259896.3:c.3336+53T>C | XP_005259953.1:n.3336+53T>C | |
| NM_000215.4:c.3207+53T>C MANE Select | NP_000206.2:n.3207+53T>C |