Linked Data
ClinVar Variation Id:
8886
dbSNP Id:
rs137853341
ExAC:
7:155595836 C / T
gnomAD v2:
7-155595836-C-T
gnomAD v3:
7-155803142-C-T
gnomAD v4:
7-155803142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155803142C>T , CM000669.2:g.155803142C>T | GRCh38 |
| NC_000007.13:g.155595836C>T , CM000669.1:g.155595836C>T | GRCh37 |
| NC_000007.12:g.155288597C>T | NCBI36 |
| NG_007504.2:g.14132G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297261.7:c.1147G>A MANE Select | ENSP00000297261.2:p.Ala383Thr | |
| ENST00000297261.6:c.1147G>A | ENSP00000297261.2:p.Ala383Thr | |
| ENST00000430104.5:c.302-2897G>A | ENSP00000396621.1:n.302-2897G>A | |
| ENST00000435425.1:c.302-2545G>A | ENSP00000413871.1:n.302-2545G>A | |
| ENST00000441114.5:c.302-2475G>A | ENSP00000410546.1:n.302-2475G>A | |
| NM_000193.2:c.1147G>A | NP_000184.1:p.Ala383Thr | |
| NM_000193.3:c.1147G>A | NP_000184.1:p.Ala383Thr | |
| NM_001310462.1:c.302-2897G>A | NP_001297391.1:n.302-2897G>A | |
| NR_132318.1:n.472-2475G>A | ||
| NR_132319.1:n.472-2545G>A | ||
| XM_011516479.1:c.886G>A | XP_011514781.1:p.Ala296Thr | |
| XM_011516480.1:c.886G>A | XP_011514782.1:p.Ala296Thr | |
| XM_011516481.1:c.886G>A | XP_011514783.1:p.Ala296Thr | |
| XM_011516482.1:c.808G>A | XP_011514784.1:p.Ala270Thr | |
| XM_011516479.2:c.886G>A | XP_011514781.1:p.Ala296Thr | |
| XM_011516480.2:c.886G>A | XP_011514782.1:p.Ala296Thr | |
| NM_000193.4:c.1147G>A MANE Select | NP_000184.1:p.Ala383Thr | |
| NM_001310462.2:c.302-2897G>A | NP_001297391.1:n.302-2897G>A | |
| NR_132318.2:n.563-2475G>A | ||
| NR_132319.2:n.563-2545G>A |