Linked Data
ClinVar Variation Id:
3018541
ClinVar RCV Id:
RCV003879188
dbSNP Id:
rs1030541539
gnomAD v2:
4-88929289-G-T
gnomAD v3:
4-88008137-G-T
gnomAD v4:
4-88008137-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008137G>T , CM000666.2:g.88008137G>T | GRCh38 |
| NC_000004.11:g.88929289G>T , CM000666.1:g.88929289G>T | GRCh37 |
| NC_000004.10:g.89148313G>T | NCBI36 |
| NG_008604.1:g.5470G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.404G>T MANE Select | ENSP00000237596.2:p.Gly135Val | |
| ENST00000237596.6:c.404G>T | ENSP00000237596.2:p.Gly135Val | |
| NM_000297.3:c.404G>T | NP_000288.1:p.Gly135Val | |
| XM_011532028.1:c.404G>T | XP_011530330.1:p.Gly135Val | |
| XR_244632.2:n.499G>T | ||
| NR_156488.1:n.491G>T | ||
| XM_011532028.2:c.404G>T | XP_011530330.1:p.Gly135Val | |
| NM_000297.4:c.404G>T MANE Select | NP_000288.1:p.Gly135Val | |
| NR_156488.2:n.503G>T |