Linked Data
dbSNP Id:
rs761370627
ExAC:
2:29449868 T / C
gnomAD v2:
2-29449868-T-C
gnomAD v4:
2-29227002-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227002T>C , CM000664.2:g.29227002T>C | GRCh38 |
| NC_000002.11:g.29449868T>C , CM000664.1:g.29449868T>C | GRCh37 |
| NC_000002.10:g.29303372T>C | NCBI36 |
| NG_009445.1:g.699565A>G , LRG_488:g.699565A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2987A>G MANE Select | ENSP00000373700.3:p.His996Arg | |
| ENST00000431873.6:c.153A>G | ||
| ENST00000389048.7:c.2987A>G | ENSP00000373700.3:p.His996Arg | |
| ENST00000618119.4:c.1856A>G | ENSP00000482733.1:p.His619Arg | |
| NM_004304.4:c.2987A>G | NP_004295.2:p.His996Arg | |
| XM_024452778.1:c.140A>G | XP_024308546.1:p.His47Arg | |
| XR_001738688.2:n.3843A>G | ||
| NM_004304.5:c.2987A>G MANE Select | NP_004295.2:p.His996Arg |