Linked Data
dbSNP Id:
rs781515714
ExAC:
2:190430345 A / T
gnomAD v2:
2-190430345-A-T
gnomAD v4:
2-189565619-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565619A>T , CM000664.2:g.189565619A>T | GRCh38 |
| NC_000002.11:g.190430345A>T , CM000664.1:g.190430345A>T | GRCh37 |
| NC_000002.10:g.190138590A>T | NCBI36 |
| NG_009027.1:g.20193T>A , LRG_837:g.20193T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.515-20T>A MANE Select | ENSP00000261024.3:n.515-20T>A | |
| ENST00000261024.6:c.515-20T>A | ENSP00000261024.2:n.515-20T>A | |
| ENST00000427241.5:c.515-20T>A | ENSP00000390005.1:n.515-20T>A | |
| NM_014585.5:c.515-20T>A , LRG_837t1:c.515-20T>A | NP_055400.1:n.515-20T>A | |
| XM_005246505.1:c.395-20T>A | XP_005246562.1:n.395-20T>A | |
| XM_005246505.2:c.395-20T>A | XP_005246562.1:n.395-20T>A | |
| XM_017003938.2:c.395-20T>A | XP_016859427.1:n.395-20T>A | |
| NM_014585.6:c.515-20T>A MANE Select | NP_055400.1:n.515-20T>A |