Linked Data
ClinVar Variation Id:
2915539
ClinVar RCV Id:
RCV003652972
dbSNP Id:
rs1196714677
gnomAD v3:
7-21748562-G-T
gnomAD v4:
7-21748562-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21748562G>T , CM000669.2:g.21748562G>T | GRCh38 |
| NC_000007.13:g.21788180G>T , CM000669.1:g.21788180G>T | GRCh37 |
| NC_000007.12:g.21754705G>T | NCBI36 |
| NG_012886.2:g.210348G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.8511-18G>T MANE Select | ENSP00000475939.1:n.8511-18G>T | |
| ENST00000328843.10:c.8532-18G>T | ENSP00000330671.7:n.8532-18G>T | |
| ENST00000409508.7:c.8511-18G>T | ENSP00000475939.1:n.8511-18G>T | |
| ENST00000620169.4:c.8532-18G>T | ENSP00000481693.1:n.8532-18G>T | |
| NM_001277115.1:c.8511-18G>T | NP_001264044.1:n.8511-18G>T | |
| NM_001277115.2:c.8511-18G>T MANE Select | NP_001264044.1:n.8511-18G>T |