Linked Data
ClinVar Variation Id:
2811031
ClinVar RCV Id:
RCV003639703
dbSNP Id:
rs1334439048
gnomAD v2:
1-116311160-C-T
gnomAD v4:
1-115768539-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768539C>T , CM000663.2:g.115768539C>T | GRCh38 |
| NC_000001.10:g.116311160C>T , CM000663.1:g.116311160C>T | GRCh37 |
| NC_000001.9:g.116112683C>T | NCBI36 |
| NG_008802.1:g.5267G>A , LRG_404:g.5267G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-223-51G>A | ENSP00000518226.1:n.-223-51G>A | |
| ENST00000261448.6:c.3G>A MANE Select | ENSP00000261448.5:p.Met1Ile | |
| ENST00000261448.5:c.3G>A | ENSP00000261448.5:p.Met1Ile | |
| NM_001232.3:c.3G>A , LRG_404t1:c.3G>A | NP_001223.2:p.Met1Ile | |
| NM_001232.4:c.3G>A MANE Select | NP_001223.2:p.Met1Ile |