Linked Data
ClinVar Variation Id:
918904
ClinVar RCV Id:
RCV001842662
dbSNP Id:
rs1800858723
gnomAD v4:
7-150945499-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150945499C>T , CM000669.2:g.150945499C>T | GRCh38 |
| NC_000007.13:g.150642587C>T , CM000669.1:g.150642587C>T | GRCh37 |
| NC_000007.12:g.150273520C>T | NCBI36 |
| NG_008916.1:g.37428G>A , LRG_288:g.37428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.4179G>A | ||
| ENST00000262186.10:c.3346G>A MANE Select | ENSP00000262186.5:p.Ala1116Thr | |
| ENST00000330883.9:c.2326G>A | ENSP00000328531.4:p.Ala776Thr | |
| ENST00000262186.9:c.3346G>A | ENSP00000262186.5:p.Ala1116Thr | |
| ENST00000330883.8:c.2326G>A | ENSP00000328531.4:p.Ala776Thr | |
| NM_000238.3:c.3346G>A , LRG_288t1:c.3346G>A | NP_000229.1:p.Ala1116Thr | |
| NM_172057.2:c.2326G>A , LRG_288t3:c.2326G>A | NP_742054.1:p.Ala776Thr | |
| XM_011516185.1:c.3046G>A | XP_011514487.1:p.Ala1016Thr | |
| XM_011516185.2:c.3046G>A | XP_011514487.1:p.Ala1016Thr | |
| XM_017012195.1:c.3196G>A | XP_016867684.1:p.Ala1066Thr | |
| XM_017012196.1:c.3169G>A | XP_016867685.1:p.Ala1057Thr | |
| NM_000238.4:c.3346G>A MANE Select | NP_000229.1:p.Ala1116Thr | |
| NM_172057.3:c.2326G>A | NP_742054.1:p.Ala776Thr |