Linked Data
ClinVar Variation Id:
350011
ClinVar RCV Id:
RCV000341866
dbSNP Id:
rs759263638
ExAC:
4:88928988 G / A
gnomAD v2:
4-88928988-G-A
gnomAD v3:
4-88007836-G-A
gnomAD v4:
4-88007836-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007836G>A , CM000666.2:g.88007836G>A | GRCh38 |
| NC_000004.11:g.88928988G>A , CM000666.1:g.88928988G>A | GRCh37 |
| NC_000004.10:g.89148012G>A | NCBI36 |
| NG_008604.1:g.5169G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.103G>A MANE Select | ENSP00000237596.2:p.Ala35Thr | |
| ENST00000237596.6:c.103G>A | ENSP00000237596.2:p.Ala35Thr | |
| NM_000297.3:c.103G>A | NP_000288.1:p.Ala35Thr | |
| XM_011532028.1:c.103G>A | XP_011530330.1:p.Ala35Thr | |
| XR_244632.2:n.198G>A | ||
| NR_156488.1:n.190G>A | ||
| XM_011532028.2:c.103G>A | XP_011530330.1:p.Ala35Thr | |
| NM_000297.4:c.103G>A MANE Select | NP_000288.1:p.Ala35Thr | |
| NR_156488.2:n.202G>A |