Linked Data
ClinVar Variation Id:
365699
ClinVar RCV Id:
RCV000279509
dbSNP Id:
rs886063670
gnomAD v2:
9-137533747-G-C
gnomAD v3:
9-134641901-G-C
gnomAD v4:
9-134641901-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134641901G>C , CM000671.2:g.134641901G>C | GRCh38 |
| NC_000009.11:g.137533747G>C , CM000671.1:g.137533747G>C | GRCh37 |
| NC_000009.10:g.136673568G>C | NCBI36 |
| NG_008030.1:g.5096G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.-287G>C | ENSP00000360885.4:n.-287G>C | |
| ENST00000371817.8:c.-287G>C MANE Select | ENSP00000360882.3:n.-287G>C | |
| ENST00000371817.7:c.-287G>C | ENSP00000360882.3:n.-287G>C | |
| ENST00000618395.4:c.-287G>C | ENSP00000481360.1:n.-287G>C | |
| NM_000093.4:c.-287G>C | NP_000084.3:n.-287G>C | |
| NM_001278074.1:c.-287G>C | NP_001265003.1:n.-287G>C | |
| XR_929712.1:n.116G>C | ||
| XR_929713.1:n.116G>C | ||
| XM_017014266.2:c.-287G>C | XP_016869755.1:n.-287G>C | |
| XR_001746183.1:n.112G>C | ||
| NM_000093.5:c.-287G>C MANE Select | NP_000084.3:n.-287G>C |