Linked Data
dbSNP Id:
rs7341474
gnomAD v2:
7-131856213-C-G
gnomAD v3:
7-132171454-C-G
gnomAD v4:
7-132171454-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.132171454C>G , CM000669.2:g.132171454C>G | GRCh38 |
| NC_000007.13:g.131856213C>G , CM000669.1:g.131856213C>G | GRCh37 |
| NC_000007.12:g.131506753C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321063.9:c.4018-2882G>C MANE Select | ENSP00000323194.4:n.4018-2882G>C | |
| ENST00000321063.8:c.4018-2882G>C | ENSP00000323194.4:n.4018-2882G>C | |
| ENST00000359827.7:c.4018-2882G>C | ENSP00000352882.3:n.4018-2882G>C | |
| NM_020911.1:c.4018-2882G>C | NP_065962.1:n.4018-2882G>C | |
| XM_005250686.3:c.4018-2882G>C | XP_005250743.1:n.4018-2882G>C | |
| XM_006716171.2:c.4018-2882G>C | XP_006716234.1:n.4018-2882G>C | |
| XR_927546.1:n.4153-2536G>C | ||
| XM_005250686.5:c.4018-2882G>C | XP_005250743.1:n.4018-2882G>C | |
| XM_006716171.4:c.4018-2882G>C | XP_006716234.1:n.4018-2882G>C | |
| XM_017012779.1:c.3817-2882G>C | XP_016868268.1:n.3817-2882G>C | |
| XR_927546.2:n.4153-2536G>C | ||
| NM_001393897.1:c.4018-2882G>C | NP_001380826.1:n.4018-2882G>C | |
| NM_020911.2:c.4018-2882G>C MANE Select | NP_065962.1:n.4018-2882G>C |