Linked Data
ClinVar Variation Id:
347822
dbSNP Id:
rs199554805
ExAC:
4:155510065 T / G
gnomAD v2:
4-155510065-T-G
gnomAD v3:
4-154588913-T-G
gnomAD v4:
4-154588913-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154588913T>G , CM000666.2:g.154588913T>G | GRCh38 |
| NC_000004.11:g.155510065T>G , CM000666.1:g.155510065T>G | GRCh37 |
| NC_000004.10:g.155729515T>G | NCBI36 |
| NG_008832.1:g.6833A>C , LRG_557:g.6833A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651975.2:c.244A>C | ENSP00000498441.1:p.Thr82Pro | |
| ENST00000403106.8:c.244A>C MANE Select | ENSP00000385981.3:p.Thr82Pro | |
| ENST00000651975.1:c.244A>C | ENSP00000498441.1:p.Thr82Pro | |
| ENST00000302053.7:c.244A>C | ENSP00000306361.3:p.Thr82Pro | |
| ENST00000403106.7:c.244A>C | ENSP00000385981.3:p.Thr82Pro | |
| ENST00000622532.1:c.244A>C | ENSP00000478487.1:p.Thr82Pro | |
| NM_000508.3:c.244A>C , LRG_557t1:c.244A>C | NP_000499.1:p.Thr82Pro | |
| NM_021871.2:c.244A>C , LRG_557t2:c.244A>C | NP_068657.1:p.Thr82Pro | |
| NM_000508.4:c.244A>C | NP_000499.1:p.Thr82Pro | |
| NM_021871.3:c.244A>C | NP_068657.1:p.Thr82Pro | |
| NM_021871.4:c.244A>C MANE Select | NP_068657.1:p.Thr82Pro | |
| NM_000508.5:c.244A>C | NP_000499.1:p.Thr82Pro |