Linked Data
dbSNP Id:
rs8141691
gnomAD v2:
22-19909426-G-A
gnomAD v3:
22-19921903-G-A
gnomAD v4:
22-19921903-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19921903G>A , CM000684.2:g.19921903G>A | GRCh38 |
| NC_000022.10:g.19909426G>A , CM000684.1:g.19909426G>A | GRCh37 |
| NC_000022.9:g.18289426G>A | NCBI36 |
| NG_011835.1:g.24934C>T , LRG_417:g.24934C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.173-2304C>T MANE Select | ENSP00000383365.1:n.173-2304C>T | |
| ENST00000334363.14:c.173-2304C>T | ENSP00000334451.9:n.173-2304C>T | |
| ENST00000400518.5:c.83-2304C>T | ENSP00000383362.1:n.83-2304C>T | |
| ENST00000400519.6:c.170-2304C>T | ENSP00000383363.1:n.170-2304C>T | |
| ENST00000400521.6:c.173-2304C>T | ENSP00000383365.1:n.173-2304C>T | |
| ENST00000400525.6:c.104-2304C>T | ENSP00000383369.3:n.104-2304C>T | |
| ENST00000474308.5:c.173-2899C>T | ENSP00000485665.1:n.173-2899C>T | |
| ENST00000491939.6:c.77-2304C>T | ENSP00000485543.1:n.77-2304C>T | |
| ENST00000496729.2:n.178-2304C>T | ||
| ENST00000542719.6:c.-116-2304C>T | ENSP00000485128.2:n.-116-2304C>T | |
| NM_001282512.1:c.173-2304C>T | NP_001269441.1:n.173-2304C>T | |
| NM_006440.4:c.173-2304C>T | NP_006431.2:n.173-2304C>T | |
| NM_001282512.2:c.173-2304C>T | NP_001269441.1:n.173-2304C>T | |
| NM_001352300.1:c.170-2304C>T | NP_001339229.1:n.170-2304C>T | |
| NM_001352301.1:c.83-2304C>T | NP_001339230.1:n.83-2304C>T | |
| NM_001352302.1:c.-116-2304C>T | NP_001339231.1:n.-116-2304C>T | |
| NM_001352303.1:c.77-2304C>T | NP_001339232.1:n.77-2304C>T | |
| NR_147957.1:n.362-2899C>T | ||
| NM_006440.5:c.173-2304C>T MANE Select | NP_006431.2:n.173-2304C>T | |
| NM_001282512.3:c.173-2304C>T | NP_001269441.1:n.173-2304C>T | |
| NM_001352300.2:c.170-2304C>T | NP_001339229.1:n.170-2304C>T | |
| NR_147957.2:n.188-2899C>T | ||
| NM_001352301.2:c.83-2304C>T | NP_001339230.1:n.83-2304C>T | |
| NM_001352302.2:c.-116-2304C>T | NP_001339231.1:n.-116-2304C>T | |
| NM_001352303.2:c.77-2304C>T | NP_001339232.1:n.77-2304C>T |