Linked Data
dbSNP Id:
rs13219957
gnomAD v2:
6-149270829-G-A
gnomAD v3:
6-148949693-G-A
gnomAD v4:
6-148949693-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.148949693G>A , CM000668.2:g.148949693G>A | GRCh38 |
| NC_000006.11:g.149270829G>A , CM000668.1:g.149270829G>A | GRCh37 |
| NC_000006.10:g.149312522G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367463.5:c.448-4179G>A MANE Select | ENSP00000356433.4:n.448-4179G>A | |
| ENST00000367463.4:c.448-4179G>A | ENSP00000356433.4:n.448-4179G>A | |
| NM_005715.2:c.448-4179G>A | NP_005706.1:n.448-4179G>A | |
| XM_005266790.3:c.448-4179G>A | XP_005266847.1:n.448-4179G>A | |
| XM_011535376.1:c.448-4179G>A | XP_011533678.1:n.448-4179G>A | |
| XM_011535377.1:c.448-4179G>A | XP_011533679.1:n.448-4179G>A | |
| XM_011535378.1:c.448-4179G>A | XP_011533680.1:n.448-4179G>A | |
| XR_942249.1:n.917-4179G>A | ||
| XM_011535378.3:c.448-4179G>A | XP_011533680.1:n.448-4179G>A | |
| XM_017010152.1:c.448-4179G>A | XP_016865641.1:n.448-4179G>A | |
| XR_001743088.2:n.452-4179G>A | ||
| NM_005715.3:c.448-4179G>A MANE Select | NP_005706.1:n.448-4179G>A |