Linked Data
dbSNP Id:
rs375347534
ExAC:
11:47364301 C / A
gnomAD v2:
11-47364301-C-A
gnomAD v4:
11-47342750-C-A
MyVariant Identifiers:
chr11:g.47364301C>A (hg19)
chr11:g.47364301_47364305delinsAGGGT (hg19)
chr11:g.47342750C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342750C>A , CM000673.2:g.47342750C>A | GRCh38 |
| NC_000011.9:g.47364301C>A , CM000673.1:g.47364301C>A | GRCh37 |
| NC_000011.8:g.47320877C>A | NCBI36 |
| NG_007667.1:g.14953G>T , LRG_386:g.14953G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1458-6G>T MANE Select | ENSP00000442795.1:n.1458-6G>T | |
| ENST00000256993.8:c.1458-6G>T | ENSP00000256993.5:n.1458-6G>T | |
| ENST00000399249.6:c.1458-6G>T | ENSP00000382193.2:n.1458-6G>T | |
| ENST00000544791.1:c.1458-6G>T | ENSP00000444259.1:n.1458-6G>T | |
| ENST00000545968.5:c.1458-6G>T | ENSP00000442795.1:n.1458-6G>T | |
| NM_000256.3:c.1458-6G>T , LRG_386t1:c.1458-6G>T MANE Select | NP_000247.2:n.1458-6G>T | |
| XM_011520117.1:c.1440-6G>T | XP_011518419.1:n.1440-6G>T | |
| XM_011520118.1:c.1458-6G>T | XP_011518420.1:n.1458-6G>T |