Linked Data
dbSNP Id:
rs1490157
gnomAD v2:
3-21719246-C-T
gnomAD v3:
3-21677754-C-T
gnomAD v4:
3-21677754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.21677754C>T , CM000665.2:g.21677754C>T | GRCh38 |
| NC_000003.11:g.21719246C>T , CM000665.1:g.21719246C>T | GRCh37 |
| NC_000003.10:g.21694250C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446749.2:c.23-12726G>A | ENSP00000388232.1:n.23-12726G>A | |
| ENST00000494108.3:c.326-12726G>A | ENSP00000495609.3:n.326-12726G>A | |
| ENST00000706131.1:c.326-12726G>A | ENSP00000516216.1:n.326-12726G>A | |
| ENST00000706132.1:c.23-12726G>A | ENSP00000516217.1:n.23-12726G>A | |
| ENST00000706133.1:c.399-12726G>A | ENSP00000516218.1:n.399-12726G>A | |
| ENST00000706134.1:c.14-12726G>A | ENSP00000516219.1:n.14-12726G>A | |
| ENST00000706135.1:c.390-12726G>A | ENSP00000516220.1:n.390-12726G>A | |
| ENST00000706136.1:c.388-12726G>A | ENSP00000516221.1:n.388-12726G>A | |
| ENST00000706137.1:c.*129-12726G>A | ENSP00000516222.1:n.*129-12726G>A | |
| ENST00000706138.1:c.*136-12726G>A | ENSP00000516223.1:n.*136-12726G>A | |
| ENST00000281523.8:c.23-12726G>A MANE Select | ENSP00000281523.2:n.23-12726G>A | |
| ENST00000494108.2:c.326-12726G>A | ENSP00000495609.2:n.326-12726G>A | |
| ENST00000281523.7:c.23-12726G>A | ENSP00000281523.2:n.23-12726G>A | |
| ENST00000446749.1:c.23-12726G>A | ENSP00000388232.1:n.23-12726G>A | |
| ENST00000478967.5:n.170-12726G>A | ||
| ENST00000494108.1:n.747-12726G>A | ||
| ENST00000494118.5:n.467-113070G>A | ||
| NM_024697.2:c.23-12726G>A | NP_078973.1:n.23-12726G>A | |
| XM_005265485.2:c.326-12726G>A | XP_005265542.1:n.326-12726G>A | |
| XM_005265486.2:c.326-12726G>A | XP_005265543.1:n.326-12726G>A | |
| XM_005265487.2:c.23-12726G>A | XP_005265544.1:n.23-12726G>A | |
| XM_011534114.1:c.176-12726G>A | XP_011532416.1:n.176-12726G>A | |
| XM_011534115.1:c.113-12726G>A | XP_011532417.1:n.113-12726G>A | |
| XM_011534116.1:c.74-12726G>A | XP_011532418.1:n.74-12726G>A | |
| XM_011534117.1:c.68-12726G>A | XP_011532419.1:n.68-12726G>A | |
| XM_011534118.1:c.23-12726G>A | XP_011532420.1:n.23-12726G>A | |
| XM_011534119.1:c.10-113070G>A | XP_011532421.1:n.10-113070G>A | |
| XM_011534121.1:c.326-12726G>A | XP_011532423.1:n.326-12726G>A | |
| XM_011534122.1:c.326-12726G>A | XP_011532424.1:n.326-12726G>A | |
| XM_011534123.1:c.326-12726G>A | XP_011532425.1:n.326-12726G>A | |
| XM_011534124.1:c.326-12726G>A | XP_011532426.1:n.326-12726G>A | |
| XM_011534126.1:c.326-12726G>A | XP_011532428.1:n.326-12726G>A | |
| XM_011534127.1:c.326-12726G>A | XP_011532429.1:n.326-12726G>A | |
| XM_011534128.1:c.326-12726G>A | XP_011532430.1:n.326-12726G>A | |
| XM_011534129.1:c.326-12726G>A | XP_011532431.1:n.326-12726G>A | |
| XM_011534122.2:c.326-12726G>A | XP_011532424.1:n.326-12726G>A | |
| XM_011534123.2:c.326-12726G>A | XP_011532425.1:n.326-12726G>A | |
| XM_011534124.3:c.326-12726G>A | XP_011532426.1:n.326-12726G>A | |
| XM_017007191.1:c.326-12726G>A | XP_016862680.1:n.326-12726G>A | |
| XM_017007192.1:c.326-12726G>A | XP_016862681.1:n.326-12726G>A | |
| XM_017007193.1:c.113-12726G>A | XP_016862682.1:n.113-12726G>A | |
| XM_017007194.1:c.74-12726G>A | XP_016862683.1:n.74-12726G>A | |
| XM_017007195.1:c.68-12726G>A | XP_016862684.1:n.68-12726G>A | |
| XM_017007196.1:c.23-12726G>A | XP_016862685.1:n.23-12726G>A | |
| XM_017007197.1:c.14-12726G>A | XP_016862686.1:n.14-12726G>A | |
| XM_017007198.1:c.11-12726G>A | XP_016862687.1:n.11-12726G>A | |
| XM_017007199.1:c.10-113070G>A | XP_016862688.1:n.10-113070G>A | |
| XM_017007203.1:c.326-12726G>A | XP_016862692.1:n.326-12726G>A | |
| XM_024453754.1:c.68-12726G>A | XP_024309522.1:n.68-12726G>A | |
| NM_024697.3:c.23-12726G>A MANE Select | NP_078973.1:n.23-12726G>A |