Linked Data
dbSNP Id:
rs201332995
ExAC:
21:38437967 G / T
gnomAD v2:
21-38437967-G-T
gnomAD v4:
21-37065667-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37065667G>T , CM000683.2:g.37065667G>T | GRCh38 |
| NC_000021.8:g.38437967G>T , CM000683.1:g.38437967G>T | GRCh37 |
| NC_000021.7:g.37359837G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360525.9:c.320C>A MANE Select | ENSP00000353719.3:p.Ala107Asp | |
| ENST00000329667.7:n.269C>A | ||
| ENST00000360525.8:c.320C>A | ENSP00000353719.3:p.Ala107Asp | |
| ENST00000399098.5:c.242C>A | ENSP00000382049.1:p.Ala81Asp | |
| ENST00000399102.5:c.320C>A | ENSP00000382053.1:p.Ala107Asp | |
| ENST00000399103.5:c.320C>A | ENSP00000382054.1:p.Ala107Asp | |
| ENST00000464265.5:c.392C>A | ENSP00000420037.1:p.Ala131Asp | |
| NM_153681.2:c.392C>A | NP_710148.1:p.Ala131Asp | |
| NM_153682.2:c.320C>A | NP_710149.1:p.Ala107Asp | |
| NR_028352.1:n.667C>A | ||
| XM_005260990.3:c.320C>A | XP_005261047.1:p.Ala107Asp | |
| XM_011529595.1:c.320C>A | XP_011527897.1:p.Ala107Asp | |
| XM_011529596.1:c.320C>A | XP_011527898.1:p.Ala107Asp | |
| NM_001320480.1:c.320C>A | NP_001307409.1:p.Ala107Asp | |
| NM_016430.3:c.242C>A | NP_057514.2:p.Ala81Asp | |
| XM_017028365.1:c.242C>A | XP_016883854.1:p.Ala81Asp | |
| NM_001320480.2:c.320C>A | NP_001307409.1:p.Ala107Asp | |
| NM_016430.4:c.242C>A | NP_057514.2:p.Ala81Asp | |
| NM_153682.3:c.320C>A MANE Select | NP_710149.1:p.Ala107Asp |