Linked Data
dbSNP Id:
rs1297811012
gnomAD v2:
5-76264360-T-C
gnomAD v3:
5-76968535-T-C
gnomAD v4:
5-76968535-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76968535T>C , CM000667.2:g.76968535T>C | GRCh38 |
| NC_000005.9:g.76264360T>C , CM000667.1:g.76264360T>C | GRCh37 |
| NC_000005.8:g.76300116T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274368.9:c.812-193T>C MANE Select | ENSP00000274368.4:n.812-193T>C | |
| ENST00000274368.8:c.812-193T>C | ENSP00000274368.4:n.812-193T>C | |
| ENST00000503763.1:n.227-193T>C | ||
| ENST00000514258.1:n.311+5075T>C | ||
| NM_001882.3:c.812-193T>C | NP_001873.2:n.812-193T>C | |
| XR_948235.1:n.1111+5075T>C | ||
| XR_948235.3:n.1091+5075T>C | ||
| NM_001882.4:c.812-193T>C MANE Select | NP_001873.2:n.812-193T>C |