Linked Data
dbSNP Id:
rs534622654
gnomAD v2:
10-101604332-G-C
gnomAD v3:
10-99844575-G-C
gnomAD v4:
10-99844575-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99844575G>C , CM000672.2:g.99844575G>C | GRCh38 |
| NC_000010.10:g.101604332G>C , CM000672.1:g.101604332G>C | GRCh37 |
| NC_000010.9:g.101594322G>C | NCBI36 |
| NG_011798.1:g.66870G>C | |
| NG_011798.2:g.66978G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3987+110G>C MANE Select | ENSP00000497274.1:n.3987+110G>C | |
| ENST00000649459.1:n.335+110G>C | ||
| ENST00000370449.8:c.3987+110G>C | ENSP00000359478.4:n.3987+110G>C | |
| NM_000392.4:c.3987+110G>C | NP_000383.1:n.3987+110G>C | |
| XM_006717630.2:c.3291+110G>C | XP_006717693.1:n.3291+110G>C | |
| XR_945604.1:n.4176+110G>C | ||
| XR_945605.1:n.4051+110G>C | ||
| NM_000392.5:c.3987+110G>C MANE Select | NP_000383.2:n.3987+110G>C | |
| XM_006717630.3:c.3291+110G>C | XP_006717693.1:n.3291+110G>C | |
| XR_945604.3:n.4230+110G>C | ||
| XR_945605.3:n.4103+110G>C |