Linked Data
dbSNP Id:
rs11057851
gnomAD v2:
12-125328779-G-A
gnomAD v3:
12-124844233-G-A
gnomAD v4:
12-124844233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124844233G>A , CM000674.2:g.124844233G>A | GRCh38 |
| NC_000012.11:g.125328779G>A , CM000674.1:g.125328779G>A | GRCh37 |
| NC_000012.10:g.123894732G>A | NCBI36 |
| NG_028199.1:g.24741C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261693.11:c.126+19362C>T MANE Select | ENSP00000261693.6:n.126+19362C>T | |
| ENST00000539320.3:n.359+19362C>T | ||
| ENST00000679605.1:c.126+19362C>T | ENSP00000505370.1:n.126+19362C>T | |
| ENST00000680556.1:c.126+19362C>T | ENSP00000505757.1:n.126+19362C>T | |
| ENST00000680596.1:c.126+19362C>T | ENSP00000505605.1:n.126+19362C>T | |
| ENST00000680926.1:c.126+19362C>T | ENSP00000505571.1:n.126+19362C>T | |
| ENST00000680982.1:c.*109+18147C>T | ENSP00000506281.1:n.*109+18147C>T | |
| ENST00000681117.1:c.126+19362C>T | ENSP00000506693.1:n.126+19362C>T | |
| ENST00000681686.1:c.126+19362C>T | ENSP00000505406.1:n.126+19362C>T | |
| ENST00000261693.10:c.126+19362C>T | ENSP00000261693.6:n.126+19362C>T | |
| ENST00000339570.9:c.126+19362C>T | ENSP00000343795.4:n.126+19362C>T | |
| ENST00000415380.6:c.126+19362C>T | ENSP00000414979.2:n.126+19362C>T | |
| ENST00000535005.5:n.441+22756C>T | ||
| ENST00000538291.5:n.269+19362C>T | ||
| ENST00000539320.2:n.420+18147C>T | ||
| ENST00000541661.5:n.168-26526C>T | ||
| ENST00000545493.1:c.126+19362C>T | ENSP00000443454.1:n.126+19362C>T | |
| ENST00000546215.5:c.126+19362C>T | ENSP00000442862.1:n.126+19362C>T | |
| NM_001082959.1:c.126+19362C>T | NP_001076428.1:n.126+19362C>T | |
| NM_005505.4:c.126+19362C>T | NP_005496.4:n.126+19362C>T | |
| NM_005505.5:c.126+19362C>T MANE Select | NP_005496.4:n.126+19362C>T | |
| NM_001082959.2:c.126+19362C>T | NP_001076428.1:n.126+19362C>T | |
| NM_001367981.1:c.126+19362C>T | NP_001354910.1:n.126+19362C>T | |
| NM_001367983.1:c.126+19362C>T | NP_001354912.1:n.126+19362C>T | |
| NM_001367984.1:c.126+19362C>T | NP_001354913.1:n.126+19362C>T | |
| NM_001367985.1:c.126+19362C>T | NP_001354914.1:n.126+19362C>T | |
| NM_001367986.1:c.126+19362C>T | NP_001354915.1:n.126+19362C>T | |
| NM_001367987.1:c.126+19362C>T | NP_001354916.1:n.126+19362C>T | |
| NM_001367988.1:c.126+19362C>T | NP_001354917.1:n.126+19362C>T | |
| NM_001367989.1:c.126+19362C>T | NP_001354918.1:n.126+19362C>T | |
| NR_160416.1:n.270+19362C>T | ||
| NR_160417.1:n.270+19362C>T | ||
| NR_160418.1:n.270+19362C>T | ||
| NR_160419.1:n.270+19362C>T | ||
| NR_160420.1:n.270+19362C>T | ||
| NR_160421.1:n.270+19362C>T | ||
| NR_160422.1:n.270+19362C>T | ||
| NR_160423.1:n.270+19362C>T | ||
| NR_160424.1:n.270+19362C>T |