Linked Data
dbSNP Id:
rs146980710
ExAC:
13:28608310 G / A
gnomAD v2:
13-28608310-G-A
gnomAD v3:
13-28034173-G-A
gnomAD v4:
13-28034173-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28034173G>A , CM000675.2:g.28034173G>A | GRCh38 |
| NC_000013.10:g.28608310G>A , CM000675.1:g.28608310G>A | GRCh37 |
| NC_000013.9:g.27506310G>A | NCBI36 |
| NG_007066.1:g.71396C>T , LRG_457:g.71396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.1746C>T MANE Select | ENSP00000241453.7:p.Thr582= | |
| ENST00000241453.11:c.1746C>T | ENSP00000241453.7:p.Thr582= | |
| ENST00000380987.2:c.1746C>T | ENSP00000370374.2:p.Thr582= | |
| NM_004119.2:c.1746C>T , LRG_457t1:c.1746C>T | NP_004110.2:p.Thr582= | |
| NR_130706.1:n.1828C>T | ||
| XM_011535015.1:c.1689C>T | XP_011533317.1:p.Thr563= | |
| XM_011535016.1:c.1221C>T | XP_011533318.1:p.Thr407= | |
| XM_011535017.1:c.1221C>T | XP_011533319.1:p.Thr407= | |
| XM_011535018.1:c.1221C>T | XP_011533320.1:p.Thr407= | |
| XM_011535015.2:c.1689C>T | XP_011533317.1:p.Thr563= | |
| XM_011535017.2:c.1221C>T | XP_011533319.1:p.Thr407= | |
| XM_011535018.2:c.1221C>T | XP_011533320.1:p.Thr407= | |
| XM_017020486.1:c.1530C>T | XP_016875975.1:p.Thr510= | |
| XM_017020487.1:c.1221C>T | XP_016875976.1:p.Thr407= | |
| XM_017020488.1:c.867C>T | XP_016875977.1:p.Thr289= | |
| XM_017020489.1:c.849C>T | XP_016875978.1:p.Thr283= | |
| NM_004119.3:c.1746C>T MANE Select | NP_004110.2:p.Thr582= | |
| NR_130706.2:n.1812C>T |