Linked Data
dbSNP Id:
rs1487823450
gnomAD v2:
3-98304553-C-T
gnomAD v3:
3-98585709-C-T
gnomAD v4:
3-98585709-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585709C>T , CM000665.2:g.98585709C>T | GRCh38 |
| NC_000003.11:g.98304553C>T , CM000665.1:g.98304553C>T | GRCh37 |
| NC_000003.10:g.99787243C>T | NCBI36 |
| NG_015994.1:g.12903G>A | |
| NG_015994.2:g.12903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.954-50G>A MANE Select | ENSP00000497326.1:n.954-50G>A | |
| ENST00000264193.2:c.954-50G>A | ENSP00000264193.2:n.954-50G>A | |
| ENST00000510489.1:n.154G>A | ||
| NM_000097.5:c.954-50G>A | NP_000088.3:n.954-50G>A | |
| XM_005247125.3:c.954-50G>A | XP_005247182.1:n.954-50G>A | |
| NM_000097.7:c.954-50G>A MANE Select | NP_000088.3:n.954-50G>A | |
| XM_005247125.4:c.954-50G>A | XP_005247182.1:n.954-50G>A | |
| XR_001740025.2:n.1125-50G>A | ||
| XR_001740026.1:n.1639G>A | ||
| XR_001740027.1:n.1229-50G>A | ||
| XR_001740028.1:n.1195-50G>A |