Linked Data
dbSNP Id:
rs1143639
gnomAD v2:
2-113588793-C-T
gnomAD v3:
2-112831216-C-T
gnomAD v4:
2-112831216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112831216C>T , CM000664.2:g.112831216C>T | GRCh38 |
| NC_000002.11:g.113588793C>T , CM000664.1:g.113588793C>T | GRCh37 |
| NC_000002.10:g.113305264C>T | NCBI36 |
| NG_008851.1:g.10564G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.597+76G>A MANE Select | ENSP00000263341.2:n.597+76G>A | |
| ENST00000263341.6:c.597+76G>A | ENSP00000263341.2:n.597+76G>A | |
| ENST00000487639.1:n.574G>A | ||
| ENST00000491056.5:n.1404+76G>A | ||
| NM_000576.2:c.597+76G>A | NP_000567.1:n.597+76G>A | |
| XM_006712496.1:c.363+76G>A | XP_006712559.1:n.363+76G>A | |
| XM_017003988.2:c.504+76G>A | XP_016859477.1:n.504+76G>A | |
| NM_000576.3:c.597+76G>A MANE Select | NP_000567.1:n.597+76G>A |