Linked Data
dbSNP Id:
rs1420563368
gnomAD v2:
9-104191796-T-A
gnomAD v3:
9-101429514-T-A
gnomAD v4:
9-101429514-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429514T>A , CM000671.2:g.101429514T>A | GRCh38 |
| NC_000009.11:g.104191796T>A , CM000671.1:g.104191796T>A | GRCh37 |
| NC_000009.10:g.103231617T>A | NCBI36 |
| NG_012387.1:g.11267A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.324+241A>T MANE Select | ENSP00000497767.1:n.324+241A>T | |
| ENST00000648064.1:c.324+241A>T | ENSP00000497990.1:n.324+241A>T | |
| ENST00000648758.1:c.324+241A>T | ENSP00000497731.1:n.324+241A>T | |
| ENST00000648906.1:n.735A>T | ||
| ENST00000649902.1:c.324+241A>T | ENSP00000497216.1:n.324+241A>T | |
| ENST00000650613.1:n.641A>T | ||
| ENST00000374855.8:c.324+241A>T | ENSP00000363988.4:n.324+241A>T | |
| ENST00000468981.3:n.67+295A>T | ||
| ENST00000616752.1:c.324+241A>T | ENSP00000481363.1:n.324+241A>T | |
| NM_000035.3:c.324+241A>T | NP_000026.2:n.324+241A>T | |
| NM_000035.4:c.324+241A>T MANE Select | NP_000026.2:n.324+241A>T |