Linked Data
ClinVar Variation Id:
67471
ClinVar RCV Id:
RCV000058199
RCV000181911
RCV001088304
RCV000987996
RCV001804794
RCV001841744
RCV004019015
RCV004549486
dbSNP Id:
rs199473544
ExAC:
7:150644456 C / T
gnomAD v2:
7-150644456-C-T
gnomAD v3:
7-150947368-C-T
gnomAD v4:
7-150947368-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947368C>T , CM000669.2:g.150947368C>T | GRCh38 |
| NC_000007.13:g.150644456C>T , CM000669.1:g.150644456C>T | GRCh37 |
| NC_000007.12:g.150275389C>T | NCBI36 |
| NG_008916.1:g.35559G>A , LRG_288:g.35559G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3945G>A | ||
| ENST00000262186.10:c.3112G>A MANE Select | ENSP00000262186.5:p.Val1038Met | |
| ENST00000330883.9:c.2092G>A | ENSP00000328531.4:p.Val698Met | |
| ENST00000262186.9:c.3112G>A | ENSP00000262186.5:p.Val1038Met | |
| ENST00000330883.8:c.2092G>A | ENSP00000328531.4:p.Val698Met | |
| NM_000238.3:c.3112G>A , LRG_288t1:c.3112G>A | NP_000229.1:p.Val1038Met | |
| NM_172057.2:c.2092G>A , LRG_288t3:c.2092G>A | NP_742054.1:p.Val698Met | |
| XM_011516185.1:c.2812G>A | XP_011514487.1:p.Val938Met | |
| XM_011516185.2:c.2812G>A | XP_011514487.1:p.Val938Met | |
| XM_017012195.1:c.2962G>A | XP_016867684.1:p.Val988Met | |
| XM_017012196.1:c.2935G>A | XP_016867685.1:p.Val979Met | |
| NM_000238.4:c.3112G>A MANE Select | NP_000229.1:p.Val1038Met | |
| NM_172057.3:c.2092G>A | NP_742054.1:p.Val698Met |