Linked Data
ClinVar Variation Id:
2797917
ClinVar RCV Id:
RCV003673486
dbSNP Id:
rs762084130
ExAC:
10:101590052 G / T
gnomAD v2:
10-101590052-G-T
gnomAD v4:
10-99830295-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830295G>T , CM000672.2:g.99830295G>T | GRCh38 |
| NC_000010.10:g.101590052G>T , CM000672.1:g.101590052G>T | GRCh37 |
| NC_000010.9:g.101580042G>T | NCBI36 |
| NG_011798.1:g.52590G>T | |
| NG_011798.2:g.52698G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2621-12G>T MANE Select | ENSP00000497274.1:n.2621-12G>T | |
| ENST00000370449.8:c.2621-12G>T | ENSP00000359478.4:n.2621-12G>T | |
| NM_000392.4:c.2621-12G>T | NP_000383.1:n.2621-12G>T | |
| XM_006717630.2:c.1925-12G>T | XP_006717693.1:n.1925-12G>T | |
| XM_006717631.2:c.*48-12G>T | XP_006717694.1:n.*48-12G>T | |
| XM_011539291.1:c.2621-12G>T | XP_011537593.1:n.2621-12G>T | |
| XR_945604.1:n.2810-12G>T | ||
| XR_945605.1:n.2812-12G>T | ||
| NM_000392.5:c.2621-12G>T MANE Select | NP_000383.2:n.2621-12G>T | |
| XM_006717630.3:c.1925-12G>T | XP_006717693.1:n.1925-12G>T | |
| XM_006717631.4:c.*48-12G>T | XP_006717694.1:n.*48-12G>T | |
| XM_011539291.3:c.2621-12G>T | XP_011537593.1:n.2621-12G>T | |
| XR_945604.3:n.2864-12G>T | ||
| XR_945605.3:n.2864-12G>T |