Linked Data
ClinVar Variation Id:
370476
ClinVar RCV Id:
RCV000409638
dbSNP Id:
rs768020954
ExAC:
1:98386476 C / T
gnomAD v2:
1-98386476-C-T
gnomAD v3:
1-97920920-C-T
gnomAD v4:
1-97920920-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97920920C>T , CM000663.2:g.97920920C>T | GRCh38 |
| NC_000001.10:g.98386476C>T , CM000663.1:g.98386476C>T | GRCh37 |
| NC_000001.9:g.98159064C>T | NCBI36 |
| NG_008807.2:g.5140G>A , LRG_722:g.5140G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.3G>A MANE Select | ENSP00000359211.3:p.Met1Ile | |
| ENST00000646851.1:n.688+20653G>A | ||
| ENST00000306031.5:c.3G>A | ENSP00000307107.5:p.Met1Ile | |
| ENST00000370192.7:c.3G>A | ENSP00000359211.3:p.Met1Ile | |
| ENST00000460019.1:n.78G>A | ||
| NM_000110.3:c.3G>A , LRG_722t1:c.3G>A | NP_000101.2:p.Met1Ile | |
| NM_001160301.1:c.3G>A , LRG_722t2:c.3G>A | NP_001153773.1:p.Met1Ile | |
| XM_005270562.3:c.3G>A | XP_005270619.2:p.Met1Ile | |
| XM_006710397.2:c.3G>A | XP_006710460.1:p.Met1Ile | |
| XM_006710397.3:c.3G>A | XP_006710460.1:p.Met1Ile | |
| XM_017000507.1:c.3G>A | XP_016855996.1:p.Met1Ile | |
| XM_017000508.2:c.-708G>A | XP_016855997.1:n.-708G>A | |
| XM_017000509.2:c.-606G>A | XP_016855998.1:n.-606G>A | |
| XM_017000510.1:c.-495G>A | XP_016855999.1:n.-495G>A | |
| XR_001737014.1:n.140G>A | ||
| NM_000110.4:c.3G>A MANE Select | NP_000101.2:p.Met1Ile |