Linked Data
dbSNP Id:
rs778786829
ExAC:
6:33636773 G / T
gnomAD v2:
6-33636773-G-T
gnomAD v4:
6-33668996-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33668996G>T , CM000668.2:g.33668996G>T | GRCh38 |
| NC_000006.11:g.33636773G>T , CM000668.1:g.33636773G>T | GRCh37 |
| NC_000006.10:g.33744751G>T | NCBI36 |
| NG_027729.1:g.52618G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2029G>T MANE Select | ENSP00000475177.1:p.Ala677Ser | |
| ENST00000374316.9:c.2029G>T | ENSP00000363435.4:p.Ala677Ser | |
| ENST00000605930.2:c.2029G>T | ENSP00000475177.1:p.Ala677Ser | |
| NM_002224.3:c.2029G>T | NP_002215.2:p.Ala677Ser | |
| XM_011514576.1:c.2098G>T | XP_011512878.1:p.Ala700Ser | |
| XM_011514577.1:c.1846G>T | XP_011512879.1:p.Ala616Ser | |
| XM_011514577.3:c.1846G>T | XP_011512879.1:p.Ala616Ser | |
| XM_017010832.1:c.2029G>T | XP_016866321.1:p.Ala677Ser | |
| NM_002224.4:c.2029G>T MANE Select | NP_002215.2:p.Ala677Ser |