Linked Data
dbSNP Id:
rs2368392
ExAC:
10:29834003 G / A
gnomAD v2:
10-29834003-G-A
gnomAD v3:
10-29545074-G-A
gnomAD v4:
10-29545074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.29545074G>A , CM000672.2:g.29545074G>A | GRCh38 |
| NC_000010.10:g.29834003G>A , CM000672.1:g.29834003G>A | GRCh37 |
| NC_000010.9:g.29874009G>A | NCBI36 |
| NG_033998.1:g.195728C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355867.9:c.827+5523C>T (SVIL) MANE Select | ENSP00000348128.4:n.827+5523C>T | |
| ENST00000674475.1:c.827+5523C>T (SVIL) | ENSP00000501521.1:n.827+5523C>T | |
| ENST00000355867.8:c.827+5523C>T (SVIL) | ENSP00000348128.4:n.827+5523C>T | |
| ENST00000375398.6:c.827+5523C>T (SVIL) | ENSP00000364547.3:n.827+5523C>T | |
| ENST00000375400.7:c.827+5523C>T (SVIL) | ENSP00000364549.3:n.827+5523C>T | |
| NM_003174.3:c.827+5523C>T (SVIL) | NP_003165.2:n.827+5523C>T | |
| NM_021738.2:c.827+5523C>T (SVIL) | NP_068506.2:n.827+5523C>T | |
| NR_030335.1:n.24C>T (MIR604) | ||
| XM_005252570.2:c.827+5523C>T (SVIL) | XP_005252627.1:n.827+5523C>T | |
| XM_005252571.2:c.827+5523C>T (SVIL) | XP_005252628.1:n.827+5523C>T | |
| XM_005252573.2:c.827+5523C>T (SVIL) | XP_005252630.1:n.827+5523C>T | |
| XM_011519630.1:c.827+5523C>T (SVIL) | XP_011517932.1:n.827+5523C>T | |
| XM_011519631.1:c.827+5523C>T (SVIL) | XP_011517933.1:n.827+5523C>T | |
| XM_011519632.1:c.827+5523C>T (SVIL) | XP_011517934.1:n.827+5523C>T | |
| XM_011519633.1:c.827+5523C>T (SVIL) | XP_011517935.1:n.827+5523C>T | |
| XM_011519634.1:c.827+5523C>T (SVIL) | XP_011517936.1:n.827+5523C>T | |
| XM_011519635.1:c.827+5523C>T (SVIL) | XP_011517937.1:n.827+5523C>T | |
| XM_011519636.1:c.827+5523C>T (SVIL) | XP_011517938.1:n.827+5523C>T | |
| XM_011519637.1:c.827+5523C>T (SVIL) | XP_011517939.1:n.827+5523C>T | |
| XM_011519638.1:c.827+5523C>T (SVIL) | XP_011517940.1:n.827+5523C>T | |
| XM_011519639.1:c.827+5523C>T (SVIL) | XP_011517941.1:n.827+5523C>T | |
| XM_011519640.1:c.827+5523C>T (SVIL) | XP_011517942.1:n.827+5523C>T | |
| NM_001323599.1:c.827+5523C>T (SVIL) | NP_001310528.1:n.827+5523C>T | |
| NM_001323600.1:c.827+5523C>T (SVIL) | NP_001310529.1:n.827+5523C>T | |
| XM_005252571.4:c.827+5523C>T (SVIL) | XP_005252628.1:n.827+5523C>T | |
| XM_005252573.3:c.827+5523C>T (SVIL) | XP_005252630.1:n.827+5523C>T | |
| XM_011519635.2:c.827+5523C>T (SVIL) | XP_011517937.1:n.827+5523C>T | |
| XM_024448138.1:c.1061+5523C>T (SVIL) | XP_024303906.1:n.1061+5523C>T | |
| XM_024448139.1:c.827+5523C>T (SVIL) | XP_024303907.1:n.827+5523C>T | |
| XM_024448140.1:c.827+5523C>T (SVIL) | XP_024303908.1:n.827+5523C>T | |
| XM_024448141.1:c.827+5523C>T (SVIL) | XP_024303909.1:n.827+5523C>T | |
| XM_024448142.1:c.827+5523C>T (SVIL) | XP_024303910.1:n.827+5523C>T | |
| XM_024448143.1:c.827+5523C>T (SVIL) | XP_024303911.1:n.827+5523C>T | |
| XM_024448144.1:c.827+5523C>T (SVIL) | XP_024303912.1:n.827+5523C>T | |
| XM_024448145.1:c.827+5523C>T (SVIL) | XP_024303913.1:n.827+5523C>T | |
| XM_024448146.1:c.827+5523C>T (SVIL) | XP_024303914.1:n.827+5523C>T | |
| XM_024448147.1:c.827+5523C>T (SVIL) | XP_024303915.1:n.827+5523C>T | |
| XM_024448148.1:c.827+5523C>T (SVIL) | XP_024303916.1:n.827+5523C>T | |
| XM_024448149.1:c.827+5523C>T (SVIL) | XP_024303917.1:n.827+5523C>T | |
| NM_001323599.2:c.827+5523C>T (SVIL) | NP_001310528.1:n.827+5523C>T | |
| NM_021738.3:c.827+5523C>T (SVIL) MANE Select | NP_068506.2:n.827+5523C>T |