Linked Data
dbSNP Id:
rs11984041
gnomAD v2:
7-19031935-C-T
gnomAD v3:
7-18992312-C-T
gnomAD v4:
7-18992312-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.18992312C>T , CM000669.2:g.18992312C>T | GRCh38 |
| NC_000007.13:g.19031935C>T , CM000669.1:g.19031935C>T | GRCh37 |
| NC_000007.12:g.18998460C>T | NCBI36 |
| NG_023250.2:g.910364C>T | |
| NG_023250.3:g.910364C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686413.1:c.3171-3711C>T MANE Select | ENSP00000509161.1:n.3171-3711C>T | |
| ENST00000441542.7:c.3171-3711C>T | ENSP00000408617.2:n.3171-3711C>T | |
| ENST00000401921.5:c.3039-3711C>T | ENSP00000383912.1:n.3039-3711C>T | |
| ENST00000406451.8:c.3162-3711C>T | ENSP00000384657.3:n.3162-3711C>T | |
| ENST00000441542.6:c.3171-3711C>T | ENSP00000408617.2:n.3171-3711C>T | |
| ENST00000490851.5:n.1143-3711C>T | ||
| ENST00000496026.1:n.540-3711C>T | ||
| NM_178423.1:c.3162-3711C>T | NP_848510.1:n.3162-3711C>T | |
| NM_178425.2:c.3171-3711C>T | NP_848512.1:n.3171-3711C>T | |
| XM_011515626.1:c.3327-3711C>T | XP_011513928.1:n.3327-3711C>T | |
| XM_011515627.1:c.3237-3711C>T | XP_011513929.1:n.3237-3711C>T | |
| XM_011515628.1:c.3234-3711C>T | XP_011513930.1:n.3234-3711C>T | |
| XM_011515629.1:c.3228-3711C>T | XP_011513931.1:n.3228-3711C>T | |
| XM_011515630.1:c.3222-3711C>T | XP_011513932.1:n.3222-3711C>T | |
| XM_011515631.1:c.3252-3711C>T | XP_011513933.1:n.3252-3711C>T | |
| XM_011515632.1:c.3243-3711C>T | XP_011513934.1:n.3243-3711C>T | |
| XM_011515633.1:c.3111-3711C>T | XP_011513935.1:n.3111-3711C>T | |
| XM_011515634.1:c.3096-3711C>T | XP_011513936.1:n.3096-3711C>T | |
| XM_011515635.1:c.3186-3711C>T | XP_011513937.1:n.3186-3711C>T | |
| XM_011515636.1:c.3177-3711C>T | XP_011513938.1:n.3177-3711C>T | |
| XM_011515637.1:c.3177-3711C>T | XP_011513939.1:n.3177-3711C>T | |
| XM_011515638.1:c.3171-3711C>T | XP_011513940.1:n.3171-3711C>T | |
| XM_011515639.1:c.3171-3711C>T | XP_011513941.1:n.3171-3711C>T | |
| XM_011515640.1:c.3093-3711C>T | XP_011513942.1:n.3093-3711C>T | |
| XM_011515641.1:c.3093-3711C>T | XP_011513943.1:n.3093-3711C>T | |
| XM_011515642.1:c.3093-3711C>T | XP_011513944.1:n.3093-3711C>T | |
| XM_011515643.1:c.3093-3711C>T | XP_011513945.1:n.3093-3711C>T | |
| XM_011515644.1:c.3078-3711C>T | XP_011513946.1:n.3078-3711C>T | |
| XM_011515645.1:c.3078-3711C>T | XP_011513947.1:n.3078-3711C>T | |
| XM_011515646.1:c.3069-3711C>T | XP_011513948.1:n.3069-3711C>T | |
| XM_011515648.1:c.3186-3711C>T | XP_011513950.1:n.3186-3711C>T | |
| XM_011515649.1:c.3186-3711C>T | XP_011513951.1:n.3186-3711C>T | |
| NM_001321868.1:c.3096-3711C>T | NP_001308797.1:n.3096-3711C>T | |
| NM_001321877.1:c.3039-3711C>T | NP_001308806.1:n.3039-3711C>T | |
| NM_001321897.1:c.3039-3711C>T | NP_001308826.1:n.3039-3711C>T | |
| NM_178423.2:c.3162-3711C>T | NP_848510.1:n.3162-3711C>T | |
| NM_178425.3:c.3171-3711C>T | NP_848512.1:n.3171-3711C>T | |
| NM_001321868.2:c.3096-3711C>T | NP_001308797.1:n.3096-3711C>T | |
| NM_001321877.2:c.3039-3711C>T | NP_001308806.1:n.3039-3711C>T | |
| NM_001321897.2:c.3039-3711C>T | NP_001308826.1:n.3039-3711C>T | |
| NM_178423.3:c.3162-3711C>T | NP_848510.1:n.3162-3711C>T | |
| NM_178425.4:c.3171-3711C>T MANE Select | NP_848512.1:n.3171-3711C>T |