Linked Data
ClinVar Variation Id:
161818
dbSNP Id:
rs184561703
ExAC:
2:70188726 G / A
gnomAD v2:
2-70188726-G-A
gnomAD v3:
2-69961594-G-A
gnomAD v4:
2-69961594-G-A
COSMIC:
COSM1179090
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69961594G>A , CM000664.2:g.69961594G>A | GRCh38 |
| NC_000002.11:g.70188726G>A , CM000664.1:g.70188726G>A | GRCh37 |
| NC_000002.10:g.70042230G>A | NCBI36 |
| NG_054918.1:g.5672C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320256.6:c.-158C>T MANE Select | ENSP00000315383.5:n.-158C>T | |
| ENST00000320256.5:c.95C>T | ENSP00000315383.4:p.Pro32Leu | |
| NM_152792.2:c.95C>T | NP_690005.2:p.Pro32Leu | |
| NM_152792.4:c.-158C>T MANE Select | NP_690005.3:n.-158C>T | |
| NR_170375.1:n.1100+13961C>T | ||
| NR_170376.1:n.701-17676C>T | ||
| NR_170631.1:n.2386C>T | ||
| NR_170632.1:n.2536C>T | ||
| NR_170634.1:n.2448C>T | ||
| NR_170635.1:n.2701C>T | ||
| NR_170636.1:n.3313C>T | ||
| NR_170637.1:n.2648C>T | ||
| NR_170638.1:n.2791C>T | ||
| NR_170639.1:n.2661C>T |