Linked Data
dbSNP Id:
rs889050045
gnomAD v3:
13-110169574-C-T
gnomAD v4:
13-110169574-C-T
MyVariant Identifiers:
chr13:g.110169574C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169574C>T , CM000675.2:g.110169574C>T | GRCh38 |
| NC_000013.10:g.110821921C>T , CM000675.1:g.110821921C>T | GRCh37 |
| NC_000013.9:g.109619922C>T | NCBI36 |
| NG_011544.2:g.142576G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3876+55G>A MANE Select | ENSP00000364979.4:n.3876+55G>A | |
| ENST00000650424.1:c.32+55G>A | ||
| ENST00000375820.8:c.3876+55G>A | ENSP00000364979.4:n.3876+55G>A | |
| NM_001845.5:c.3876+55G>A | NP_001836.3:n.3876+55G>A | |
| XM_011521048.1:c.3684+55G>A | XP_011519350.1:n.3684+55G>A | |
| XM_011521048.2:c.3684+55G>A | XP_011519350.1:n.3684+55G>A | |
| NM_001845.6:c.3876+55G>A MANE Select | NP_001836.3:n.3876+55G>A |