Linked Data
dbSNP Id:
rs778322279
ExAC:
2:113514203 T / C
gnomAD v2:
2-113514203-T-C
gnomAD v4:
2-112756626-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756626T>C , CM000664.2:g.112756626T>C | GRCh38 |
| NC_000002.11:g.113514203T>C , CM000664.1:g.113514203T>C | GRCh37 |
| NC_000002.10:g.113230674T>C | NCBI36 |
| NG_041820.1:g.13052A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.745A>G MANE Select | ENSP00000305204.6:p.Thr249Ala | |
| ENST00000302450.10:c.745A>G | ENSP00000305204.6:p.Thr249Ala | |
| ENST00000435431.5:c.478+267A>G | ENSP00000414834.1:n.478+267A>G | |
| NM_001304361.1:c.250A>G | NP_001291290.1:p.Thr84Ala | |
| NM_152515.4:c.745A>G | NP_689728.3:p.Thr249Ala | |
| NR_130712.1:n.557+267A>G | ||
| XM_011510666.1:c.250A>G | XP_011508968.1:p.Thr84Ala | |
| XM_011510666.2:c.250A>G | XP_011508968.1:p.Thr84Ala | |
| NM_152515.5:c.745A>G MANE Select | NP_689728.3:p.Thr249Ala | |
| NM_001304361.2:c.250A>G | NP_001291290.1:p.Thr84Ala | |
| NR_130712.2:n.489+267A>G |