Linked Data
dbSNP Id:
rs200464539
ExAC:
19:13247005 C / T
gnomAD v2:
19-13247005-C-T
gnomAD v3:
19-13136191-C-T
gnomAD v4:
19-13136191-C-T
MyVariant Identifiers:
chr19:g.13247005C>T (hg19)
chr19:g.13247005_13247013delinsTCTGCTCCT (hg19)
chr19:g.13136191C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13136191C>T , CM000681.2:g.13136191C>T | GRCh38 |
| NC_000019.9:g.13247005C>T , CM000681.1:g.13247005C>T | GRCh37 |
| NC_000019.8:g.13108005C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586171.3:c.946+38C>T | ENSP00000467120.2:n.946+38C>T | |
| ENST00000700232.1:c.946+38C>T | ENSP00000514870.1:n.946+38C>T | |
| ENST00000292431.5:c.946+38C>T MANE Select | ENSP00000292431.3:n.946+38C>T | |
| ENST00000292431.4:c.946+38C>T | ENSP00000292431.3:n.946+38C>T | |
| NM_052876.3:c.946+38C>T | NP_443108.1:n.946+38C>T | |
| XM_005259721.2:c.946+38C>T | XP_005259778.1:n.946+38C>T | |
| XM_005259721.3:c.946+38C>T | XP_005259778.1:n.946+38C>T | |
| NM_052876.4:c.946+38C>T MANE Select | NP_443108.1:n.946+38C>T |