Linked Data
ClinVar Variation Id:
126860
ClinVar RCV Id:
RCV000123405
dbSNP Id:
rs11075295
gnomAD v2:
16-16177687-G-A
gnomAD v3:
16-16083830-G-A
gnomAD v4:
16-16083830-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16083830G>A , CM000678.2:g.16083830G>A | GRCh38 |
| NC_000016.9:g.16177687G>A , CM000678.1:g.16177687G>A | GRCh37 |
| NC_000016.8:g.16085188G>A | NCBI36 |
| NG_028268.1:g.139254G>A | |
| NG_028268.2:g.139254G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399408.7:c.2292+288G>A | ENSP00000382340.4:n.2292+288G>A | |
| ENST00000399410.8:c.2292+288G>A MANE Select | ENSP00000382342.3:n.2292+288G>A | |
| ENST00000572882.3:c.2116-2994G>A | ENSP00000461615.2:n.2116-2994G>A | |
| ENST00000677164.1:c.1989+4352G>A | ENSP00000502873.1:n.1989+4352G>A | |
| ENST00000678422.1:c.2292+288G>A | ENSP00000503954.1:n.2292+288G>A | |
| ENST00000399408.6:c.1314+288G>A | ENSP00000382340.3:n.1314+288G>A | |
| ENST00000399410.7:c.2292+288G>A | ENSP00000382342.3:n.2292+288G>A | |
| ENST00000572882.2:c.1987+288G>A | ||
| ENST00000575422.5:n.532+288G>A | ||
| NM_004996.3:c.2292+288G>A | NP_004987.2:n.2292+288G>A | |
| XM_011522497.1:c.2268+288G>A | XP_011520799.1:n.2268+288G>A | |
| XM_011522498.1:c.2199+288G>A | XP_011520800.1:n.2199+288G>A | |
| XM_011522498.2:c.2199+288G>A | XP_011520800.1:n.2199+288G>A | |
| XM_017023237.1:c.2346+288G>A | XP_016878726.1:n.2346+288G>A | |
| XM_017023238.1:c.2220+288G>A | XP_016878727.1:n.2220+288G>A | |
| XM_017023239.1:c.2208+288G>A | XP_016878728.1:n.2208+288G>A | |
| XM_017023240.1:c.2170-2994G>A | XP_016878729.1:n.2170-2994G>A | |
| XM_017023241.1:c.2082+288G>A | XP_016878730.1:n.2082+288G>A | |
| XM_017023242.1:c.2169+4352G>A | XP_016878731.1:n.2169+4352G>A | |
| XM_017023243.2:c.2346+288G>A | XP_016878732.1:n.2346+288G>A | |
| NM_004996.4:c.2292+288G>A MANE Select | NP_004987.2:n.2292+288G>A |