Linked Data
dbSNP Id:
rs529249523
ExAC:
6:33636829 G / A
gnomAD v2:
6-33636829-G-A
gnomAD v3:
6-33669052-G-A
gnomAD v4:
6-33669052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33669052G>A , CM000668.2:g.33669052G>A | GRCh38 |
| NC_000006.11:g.33636829G>A , CM000668.1:g.33636829G>A | GRCh37 |
| NC_000006.10:g.33744807G>A | NCBI36 |
| NG_027729.1:g.52674G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2085G>A MANE Select | ENSP00000475177.1:p.Thr695= | |
| ENST00000374316.9:c.2085G>A | ENSP00000363435.4:p.Thr695= | |
| ENST00000605930.2:c.2085G>A | ENSP00000475177.1:p.Thr695= | |
| NM_002224.3:c.2085G>A | NP_002215.2:p.Thr695= | |
| XM_011514576.1:c.2154G>A | XP_011512878.1:p.Thr718= | |
| XM_011514577.1:c.1902G>A | XP_011512879.1:p.Thr634= | |
| XM_011514577.3:c.1902G>A | XP_011512879.1:p.Thr634= | |
| XM_017010832.1:c.2085G>A | XP_016866321.1:p.Thr695= | |
| NM_002224.4:c.2085G>A MANE Select | NP_002215.2:p.Thr695= |