Linked Data
ClinVar Variation Id:
8883
dbSNP Id:
rs104894043
ExAC:
7:155596307 C / T
gnomAD v2:
7-155596307-C-T
gnomAD v3:
7-155803613-C-T
gnomAD v4:
7-155803613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155803613C>T , CM000669.2:g.155803613C>T | GRCh38 |
| NC_000007.13:g.155596307C>T , CM000669.1:g.155596307C>T | GRCh37 |
| NC_000007.12:g.155289068C>T | NCBI36 |
| NG_007504.2:g.13661G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297261.7:c.676G>A MANE Select | ENSP00000297261.2:p.Ala226Thr | |
| ENST00000297261.6:c.676G>A | ENSP00000297261.2:p.Ala226Thr | |
| ENST00000430104.5:c.301+2683G>A | ENSP00000396621.1:n.301+2683G>A | |
| ENST00000435425.1:c.301+2683G>A | ENSP00000413871.1:n.301+2683G>A | |
| ENST00000441114.5:c.301+2683G>A | ENSP00000410546.1:n.301+2683G>A | |
| NM_000193.2:c.676G>A | NP_000184.1:p.Ala226Thr | |
| NM_000193.3:c.676G>A | NP_000184.1:p.Ala226Thr | |
| NM_001310462.1:c.301+2683G>A | NP_001297391.1:n.301+2683G>A | |
| NR_132318.1:n.471+2683G>A | ||
| NR_132319.1:n.471+2683G>A | ||
| XM_011516479.1:c.415G>A | XP_011514781.1:p.Ala139Thr | |
| XM_011516480.1:c.415G>A | XP_011514782.1:p.Ala139Thr | |
| XM_011516481.1:c.415G>A | XP_011514783.1:p.Ala139Thr | |
| XM_011516482.1:c.337G>A | XP_011514784.1:p.Ala113Thr | |
| XM_011516479.2:c.415G>A | XP_011514781.1:p.Ala139Thr | |
| XM_011516480.2:c.415G>A | XP_011514782.1:p.Ala139Thr | |
| NM_000193.4:c.676G>A MANE Select | NP_000184.1:p.Ala226Thr | |
| NM_001310462.2:c.301+2683G>A | NP_001297391.1:n.301+2683G>A | |
| NR_132318.2:n.562+2683G>A | ||
| NR_132319.2:n.562+2683G>A |