Linked Data
dbSNP Id:
rs772902690
ExAC:
16:28856235 C / T
gnomAD v2:
16-28856235-C-T
gnomAD v4:
16-28844914-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28844914C>T , CM000678.2:g.28844914C>T | GRCh38 |
| NC_000016.9:g.28856235C>T , CM000678.1:g.28856235C>T | GRCh37 |
| NC_000016.8:g.28763736C>T | NCBI36 |
| NG_008964.1:g.6495G>A | |
| NG_029706.2:g.3315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.519+37G>A MANE Select | ENSP00000322439.3:n.519+37G>A | |
| ENST00000313511.7:c.519+37G>A | ENSP00000322439.3:n.519+37G>A | |
| ENST00000561644.1:n.57+37G>A | ||
| ENST00000565012.1:c.*46+37G>A | ENSP00000455007.1:n.*46+37G>A | |
| NM_003321.4:c.519+37G>A | NP_003312.3:n.519+37G>A | |
| XM_011545928.1:c.519+37G>A | XP_011544230.1:n.519+37G>A | |
| NM_001365360.1:c.519+37G>A | NP_001352289.1:n.519+37G>A | |
| NM_003321.5:c.519+37G>A MANE Select | NP_003312.3:n.519+37G>A | |
| NM_001365360.2:c.519+37G>A | NP_001352289.1:n.519+37G>A |