Linked Data
dbSNP Id:
rs1551678
gnomAD v2:
10-127829012-C-G
gnomAD v3:
10-126140443-C-G
gnomAD v4:
10-126140443-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.126140443C>G , CM000672.2:g.126140443C>G | GRCh38 |
| NC_000010.10:g.127829012C>G , CM000672.1:g.127829012C>G | GRCh37 |
| NC_000010.9:g.127819002C>G | NCBI36 |
| NG_029050.1:g.253116G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448723.2:c.340-4783G>C MANE Select | ENSP00000391268.2:n.340-4783G>C | |
| ENST00000368676.8:c.349-4783G>C | ENSP00000357665.4:n.349-4783G>C | |
| ENST00000368679.8:c.349-4783G>C | ENSP00000357668.4:n.349-4783G>C | |
| ENST00000448723.1:c.340-4783G>C | ENSP00000391268.1:n.340-4783G>C | |
| ENST00000494661.1:n.80-4783G>C | ||
| NM_001288973.1:c.340-4783G>C | NP_001275902.1:n.340-4783G>C | |
| NM_001288974.1:c.340-4783G>C | NP_001275903.1:n.340-4783G>C | |
| NM_001288975.1:c.340-4783G>C | NP_001275904.1:n.340-4783G>C | |
| NM_003474.5:c.349-4783G>C | NP_003465.3:n.349-4783G>C | |
| NM_021641.4:c.349-4783G>C | NP_067673.2:n.349-4783G>C | |
| XM_017016705.1:c.-120-4783G>C | XP_016872194.1:n.-120-4783G>C | |
| NM_001288973.2:c.340-4783G>C MANE Select | NP_001275902.1:n.340-4783G>C | |
| NM_001288974.2:c.340-4783G>C | NP_001275903.1:n.340-4783G>C | |
| NM_001288975.2:c.340-4783G>C | NP_001275904.1:n.340-4783G>C | |
| NM_003474.6:c.349-4783G>C | NP_003465.3:n.349-4783G>C | |
| NM_021641.5:c.349-4783G>C | NP_067673.2:n.349-4783G>C |