Linked Data
dbSNP Id:
rs11605924
gnomAD v2:
11-45873091-A-C
gnomAD v3:
11-45851540-A-C
gnomAD v4:
11-45851540-A-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45851540A>C , CM000673.2:g.45851540A>C | GRCh38 |
| NC_000011.9:g.45873091A>C , CM000673.1:g.45873091A>C | GRCh37 |
| NC_000011.8:g.45829667A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000616080.2:c.215+3835A>C MANE Select | ENSP00000484684.1:n.215+3835A>C | |
| ENST00000417225.6:c.32+4259A>C | ENSP00000397419.2:n.32+4259A>C | |
| ENST00000443527.6:c.278+3835A>C | ENSP00000406751.2:n.278+3835A>C | |
| ENST00000473199.5:n.228+3835A>C | ||
| ENST00000496571.5:n.228+3835A>C | ||
| ENST00000532390.5:n.228+3835A>C | ||
| ENST00000616080.1:c.215+3835A>C | ENSP00000484684.1:n.215+3835A>C | |
| ENST00000616623.4:c.278+3835A>C | ENSP00000478187.1:n.278+3835A>C | |
| NM_001127457.2:c.32+4259A>C | NP_001120929.1:n.32+4259A>C | |
| NM_021117.3:c.278+3835A>C | NP_066940.2:n.278+3835A>C | |
| NM_021117.4:c.215+3835A>C | NP_066940.3:n.215+3835A>C | |
| NM_021117.5:c.215+3835A>C MANE Select | NP_066940.3:n.215+3835A>C | |
| NM_001127457.3:c.32+4259A>C | NP_001120929.1:n.32+4259A>C |