Linked Data
dbSNP Id:
rs10486607
gnomAD v2:
7-29184489-C-T
gnomAD v3:
7-29144873-C-T
gnomAD v4:
7-29144873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29144873C>T , CM000669.2:g.29144873C>T | GRCh38 |
| NC_000007.13:g.29184489C>T , CM000669.1:g.29184489C>T | GRCh37 |
| NC_000007.12:g.29151014C>T | NCBI36 |
| NG_029365.2:g.3327C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265394.10:c.-11+1556G>A (CPVL) MANE Select | ENSP00000265394.5:n.-11+1556G>A | |
| ENST00000644824.1:c.-730-981C>T | ENSP00000495614.1:n.-730-981C>T | |
| ENST00000265394.9:c.-11+1556G>A (CPVL) | ENSP00000265394.5:n.-11+1556G>A | |
| ENST00000396276.7:c.-11+1468G>A (CPVL) | ENSP00000379572.3:n.-11+1468G>A | |
| ENST00000409850.5:c.-10-23802G>A (CPVL) | ENSP00000387164.1:n.-10-23802G>A | |
| ENST00000423511.1:c.-730-981C>T (CHN2) | ENSP00000462650.1:n.-730-981C>T | |
| ENST00000437527.1:c.-10-23802G>A (CPVL) | ENSP00000416555.1:n.-10-23802G>A | |
| ENST00000449801.5:c.-10-23802G>A (CPVL) | ENSP00000413287.1:n.-10-23802G>A | |
| ENST00000455544.5:c.-10-23802G>A (CPVL) | ENSP00000412857.1:n.-10-23802G>A | |
| ENST00000488891.6:n.284-23802G>A (CPVL) | ||
| ENST00000578605.1:n.191-981C>T (CHN2) | ||
| ENST00000612187.4:c.-359+1556G>A (CPVL) | ENSP00000479581.1:n.-359+1556G>A | |
| NM_019029.2:c.-11+1468G>A (CPVL) | NP_061902.2:n.-11+1468G>A | |
| NM_031311.3:c.-11+1556G>A (CPVL) | NP_112601.3:n.-11+1556G>A | |
| XM_011515437.1:c.-11+1248G>A (CPVL) | XP_011513739.1:n.-11+1248G>A | |
| NM_001348052.1:c.-10-23802G>A (CPVL) | NP_001334981.1:n.-10-23802G>A | |
| NM_001348054.1:c.-10-23802G>A (CPVL) | NP_001334983.1:n.-10-23802G>A | |
| NM_019029.3:c.-11+1468G>A (CPVL) | NP_061902.2:n.-11+1468G>A | |
| NM_031311.4:c.-11+1556G>A (CPVL) | NP_112601.3:n.-11+1556G>A | |
| XM_017012366.1:c.-11+1556G>A (CPVL) | XP_016867855.1:n.-11+1556G>A | |
| NM_031311.5:c.-11+1556G>A (CPVL) MANE Select | NP_112601.3:n.-11+1556G>A | |
| NM_001371255.1:c.-10-23802G>A (CPVL) | NP_001358184.1:n.-10-23802G>A | |
| NM_001371256.1:c.-10-23802G>A (CPVL) | NP_001358185.1:n.-10-23802G>A | |
| NM_001371257.1:c.-10-23802G>A (CPVL) | NP_001358186.1:n.-10-23802G>A | |
| NM_001371258.1:c.-10-23802G>A (CPVL) | NP_001358187.1:n.-10-23802G>A | |
| NM_001371260.1:c.-10-23802G>A (CPVL) | NP_001358189.1:n.-10-23802G>A | |
| NM_001371261.1:c.-10-23802G>A (CPVL) | NP_001358190.1:n.-10-23802G>A | |
| NM_001371262.1:c.-10-23802G>A (CPVL) | NP_001358191.1:n.-10-23802G>A | |
| NM_001371263.1:c.-10-23802G>A (CPVL) | NP_001358192.1:n.-10-23802G>A | |
| NM_001371264.1:c.-10-23802G>A (CPVL) | NP_001358193.1:n.-10-23802G>A | |
| NM_001371265.1:c.-496-23802G>A (CPVL) | NP_001358194.1:n.-496-23802G>A | |
| NM_001371266.1:c.-364-23802G>A (CPVL) | NP_001358195.1:n.-364-23802G>A | |
| NM_001371267.1:c.-337-23802G>A (CPVL) | NP_001358196.1:n.-337-23802G>A | |
| NM_001371268.1:c.-71-23802G>A (CPVL) | NP_001358197.1:n.-71-23802G>A |