Linked Data
dbSNP Id:
rs771563230
ExAC:
4:178360759 G / C
gnomAD v2:
4-178360759-G-C
gnomAD v4:
4-177439605-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439605G>C , CM000666.2:g.177439605G>C | GRCh38 |
| NC_000004.11:g.178360759G>C , CM000666.1:g.178360759G>C | GRCh37 |
| NC_000004.10:g.178597753G>C | NCBI36 |
| NG_011845.2:g.7899C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.365C>G MANE Select | ENSP00000264595.2:p.Thr122Arg | |
| ENST00000264595.6:c.365C>G | ENSP00000264595.2:p.Thr122Arg | |
| ENST00000502310.5:c.20C>G | ENSP00000423798.1:p.Thr7Arg | |
| ENST00000506853.5:n.399C>G | ||
| ENST00000510635.1:c.61C>G | ||
| ENST00000510955.5:n.315+668C>G | ||
| NM_000027.3:c.365C>G | NP_000018.2:p.Thr122Arg | |
| NM_001171988.1:c.365C>G | NP_001165459.1:p.Thr122Arg | |
| NR_033655.1:n.493C>G | ||
| XM_006714123.2:c.365C>G | XP_006714186.1:p.Thr122Arg | |
| XR_001741155.2:n.459C>G | ||
| NM_000027.4:c.365C>G MANE Select | NP_000018.2:p.Thr122Arg | |
| NM_001171988.2:c.365C>G | NP_001165459.1:p.Thr122Arg | |
| NR_033655.2:n.427C>G |