Linked Data
ClinVar Variation Id:
162385
ClinVar RCV Id:
RCV000149780
dbSNP Id:
rs548949031
ExAC:
2:113522174 A / G
gnomAD v2:
2-113522174-A-G
gnomAD v3:
2-112764597-A-G
gnomAD v4:
2-112764597-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112764597A>G , CM000664.2:g.112764597A>G | GRCh38 |
| NC_000002.11:g.113522174A>G , CM000664.1:g.113522174A>G | GRCh37 |
| NC_000002.10:g.113238645A>G | NCBI36 |
| NG_041820.1:g.5081T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.2T>C MANE Select | ENSP00000305204.6:p.Met1Thr | |
| ENST00000302450.10:c.2T>C | ENSP00000305204.6:p.Met1Thr | |
| ENST00000435431.5:c.2T>C | ENSP00000414834.1:p.Met1Thr | |
| ENST00000461876.5:n.68T>C | ||
| ENST00000481732.5:n.22T>C | ||
| NM_001304361.1:c.-435T>C | NP_001291290.1:n.-435T>C | |
| NM_152515.4:c.2T>C | NP_689728.3:p.Met1Thr | |
| NR_130712.1:n.81T>C | ||
| XM_011510666.1:c.-427T>C | XP_011508968.1:n.-427T>C | |
| XM_011510666.2:c.-427T>C | XP_011508968.1:n.-427T>C | |
| NM_152515.5:c.2T>C MANE Select | NP_689728.3:p.Met1Thr | |
| NM_001304361.2:c.-435T>C | NP_001291290.1:n.-435T>C | |
| NR_130712.2:n.13T>C |