Linked Data
dbSNP Id:
rs775047215
gnomAD v2:
22-19883250-G-A
gnomAD v3:
22-19895727-G-A
gnomAD v4:
22-19895727-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895727G>A , CM000684.2:g.19895727G>A | GRCh38 |
| NC_000022.10:g.19883250G>A , CM000684.1:g.19883250G>A | GRCh37 |
| NC_000022.9:g.18263250G>A | NCBI36 |
| NG_011835.1:g.51110C>T , LRG_417:g.51110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.775-146C>T MANE Select | ENSP00000383365.1:n.775-146C>T | |
| ENST00000334363.14:c.775-146C>T | ENSP00000334451.9:n.775-146C>T | |
| ENST00000400518.5:c.685-146C>T | ENSP00000383362.1:n.685-146C>T | |
| ENST00000400519.6:c.772-146C>T | ENSP00000383363.1:n.772-146C>T | |
| ENST00000400521.6:c.775-146C>T | ENSP00000383365.1:n.775-146C>T | |
| ENST00000400525.6:c.706-146C>T | ENSP00000383369.3:n.706-146C>T | |
| ENST00000474308.5:c.718-146C>T | ENSP00000485665.1:n.718-146C>T | |
| ENST00000475995.3:c.272-146C>T | ||
| ENST00000491939.6:c.679-146C>T | ENSP00000485543.1:n.679-146C>T | |
| ENST00000494454.5:n.849-146C>T | ||
| ENST00000542719.6:c.487-146C>T | ENSP00000485128.2:n.487-146C>T | |
| ENST00000634537.1:c.4-146C>T | ENSP00000489208.1:n.4-146C>T | |
| ENST00000635155.1:n.361-146C>T | ||
| NM_001282512.1:c.775-146C>T | NP_001269441.1:n.775-146C>T | |
| NM_006440.4:c.775-146C>T | NP_006431.2:n.775-146C>T | |
| NM_001282512.2:c.775-146C>T | NP_001269441.1:n.775-146C>T | |
| NM_001352300.1:c.772-146C>T | NP_001339229.1:n.772-146C>T | |
| NM_001352301.1:c.685-146C>T | NP_001339230.1:n.685-146C>T | |
| NM_001352302.1:c.487-146C>T | NP_001339231.1:n.487-146C>T | |
| NM_001352303.1:c.679-146C>T | NP_001339232.1:n.679-146C>T | |
| NR_147957.1:n.907-146C>T | ||
| NM_006440.5:c.775-146C>T MANE Select | NP_006431.2:n.775-146C>T | |
| NM_001282512.3:c.775-146C>T | NP_001269441.1:n.775-146C>T | |
| NM_001352300.2:c.772-146C>T | NP_001339229.1:n.772-146C>T | |
| NR_147957.2:n.733-146C>T | ||
| NM_001352301.2:c.685-146C>T | NP_001339230.1:n.685-146C>T | |
| NM_001352302.2:c.487-146C>T | NP_001339231.1:n.487-146C>T | |
| NM_001352303.2:c.679-146C>T | NP_001339232.1:n.679-146C>T |