Linked Data
dbSNP Id:
rs775739771
ExAC:
3:98304393 T / C
gnomAD v2:
3-98304393-T-C
gnomAD v4:
3-98585549-T-C
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585549T>C , CM000665.2:g.98585549T>C | GRCh38 |
| NC_000003.11:g.98304393T>C , CM000665.1:g.98304393T>C | GRCh37 |
| NC_000003.10:g.99787083T>C | NCBI36 |
| NG_015994.1:g.13063A>G | |
| NG_015994.2:g.13063A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.1064A>G MANE Select | ENSP00000497326.1:p.Gln355Arg | |
| ENST00000264193.2:c.1064A>G | ENSP00000264193.2:p.Gln355Arg | |
| ENST00000510489.1:n.314A>G | ||
| NM_000097.5:c.1064A>G | NP_000088.3:p.Gln355Arg | |
| XM_005247125.3:c.1064A>G | XP_005247182.1:p.Gln355Arg | |
| NM_000097.7:c.1064A>G MANE Select | NP_000088.3:p.Gln355Arg | |
| XM_005247125.4:c.1064A>G | XP_005247182.1:p.Gln355Arg | |
| XR_001740025.2:n.1235A>G | ||
| XR_001740026.1:n.1799A>G | ||
| XR_001740027.1:n.1339A>G | ||
| XR_001740028.1:n.1305A>G |