Linked Data
dbSNP Id:
rs2593321
gnomAD v2:
3-22122396-C-T
gnomAD v3:
3-22080904-C-T
gnomAD v4:
3-22080904-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.22080904C>T , CM000665.2:g.22080904C>T | GRCh38 |
| NC_000003.11:g.22122396C>T , CM000665.1:g.22122396C>T | GRCh37 |
| NC_000003.10:g.22097400C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494108.3:c.325+87913G>A | ENSP00000495609.3:n.325+87913G>A | |
| ENST00000706131.1:c.325+87913G>A | ENSP00000516216.1:n.325+87913G>A | |
| ENST00000706133.1:c.398+53415G>A | ENSP00000516218.1:n.398+53415G>A | |
| ENST00000706135.1:c.325+87913G>A | ENSP00000516220.1:n.325+87913G>A | |
| ENST00000706136.1:c.387+25426G>A | ENSP00000516221.1:n.387+25426G>A | |
| ENST00000706137.1:c.398+53415G>A | ENSP00000516222.1:n.398+53415G>A | |
| ENST00000706138.1:c.325+87913G>A | ENSP00000516223.1:n.325+87913G>A | |
| ENST00000706139.1:c.325+87913G>A | ENSP00000516224.1:n.325+87913G>A | |
| ENST00000494108.2:c.325+87913G>A | ENSP00000495609.2:n.325+87913G>A | |
| ENST00000474607.2:n.135+87913G>A | ||
| ENST00000494108.1:n.746+87913G>A | ||
| ENST00000494118.5:n.402+87913G>A | ||
| XM_005265485.2:c.325+87913G>A | XP_005265542.1:n.325+87913G>A | |
| XM_005265486.2:c.325+87913G>A | XP_005265543.1:n.325+87913G>A | |
| XM_011534116.1:c.9+87913G>A | XP_011532418.1:n.9+87913G>A | |
| XM_011534117.1:c.-42+87913G>A | XP_011532419.1:n.-42+87913G>A | |
| XM_011534119.1:c.9+87913G>A | XP_011532421.1:n.9+87913G>A | |
| XM_011534121.1:c.325+87913G>A | XP_011532423.1:n.325+87913G>A | |
| XM_011534122.1:c.325+87913G>A | XP_011532424.1:n.325+87913G>A | |
| XM_011534123.1:c.325+87913G>A | XP_011532425.1:n.325+87913G>A | |
| XM_011534124.1:c.325+87913G>A | XP_011532426.1:n.325+87913G>A | |
| XM_011534126.1:c.325+87913G>A | XP_011532428.1:n.325+87913G>A | |
| XM_011534127.1:c.325+87913G>A | XP_011532429.1:n.325+87913G>A | |
| XM_011534128.1:c.325+87913G>A | XP_011532430.1:n.325+87913G>A | |
| XM_011534129.1:c.325+87913G>A | XP_011532431.1:n.325+87913G>A | |
| XM_011534122.2:c.325+87913G>A | XP_011532424.1:n.325+87913G>A | |
| XM_011534123.2:c.325+87913G>A | XP_011532425.1:n.325+87913G>A | |
| XM_011534124.3:c.325+87913G>A | XP_011532426.1:n.325+87913G>A | |
| XM_017007191.1:c.325+87913G>A | XP_016862680.1:n.325+87913G>A | |
| XM_017007192.1:c.325+87913G>A | XP_016862681.1:n.325+87913G>A | |
| XM_017007194.1:c.9+87913G>A | XP_016862683.1:n.9+87913G>A | |
| XM_017007199.1:c.9+87913G>A | XP_016862688.1:n.9+87913G>A | |
| XM_017007203.1:c.325+87913G>A | XP_016862692.1:n.325+87913G>A | |
| XM_024453754.1:c.-42+87913G>A | XP_024309522.1:n.-42+87913G>A |