Linked Data
dbSNP Id:
rs2073963
gnomAD v2:
7-18877874-T-G
gnomAD v3:
7-18838251-T-G
gnomAD v4:
7-18838251-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.18838251T>G , CM000669.2:g.18838251T>G | GRCh38 |
| NC_000007.13:g.18877874T>G , CM000669.1:g.18877874T>G | GRCh37 |
| NC_000007.12:g.18844399T>G | NCBI36 |
| NG_023250.2:g.756303T>G | |
| NG_023250.3:g.756303T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686413.1:c.2684+2254T>G MANE Select | ENSP00000509161.1:n.2684+2254T>G | |
| ENST00000441542.7:c.2684+2254T>G | ENSP00000408617.2:n.2684+2254T>G | |
| ENST00000401921.5:c.2552+2254T>G | ENSP00000383912.1:n.2552+2254T>G | |
| ENST00000406451.8:c.2675+2254T>G | ENSP00000384657.3:n.2675+2254T>G | |
| ENST00000432645.6:c.2675+2254T>G | ENSP00000410337.2:n.2675+2254T>G | |
| ENST00000441542.6:c.2684+2254T>G | ENSP00000408617.2:n.2684+2254T>G | |
| ENST00000483142.5:n.89+2254T>G | ||
| ENST00000490851.5:n.656+2254T>G | ||
| NM_058176.2:c.2675+2254T>G | NP_478056.1:n.2675+2254T>G | |
| NM_178423.1:c.2675+2254T>G | NP_848510.1:n.2675+2254T>G | |
| NM_178425.2:c.2684+2254T>G | NP_848512.1:n.2684+2254T>G | |
| XM_011515626.1:c.2840+2254T>G | XP_011513928.1:n.2840+2254T>G | |
| XM_011515627.1:c.2750+2254T>G | XP_011513929.1:n.2750+2254T>G | |
| XM_011515628.1:c.2747+2254T>G | XP_011513930.1:n.2747+2254T>G | |
| XM_011515629.1:c.2741+2254T>G | XP_011513931.1:n.2741+2254T>G | |
| XM_011515630.1:c.2735+2254T>G | XP_011513932.1:n.2735+2254T>G | |
| XM_011515631.1:c.2765+2254T>G | XP_011513933.1:n.2765+2254T>G | |
| XM_011515632.1:c.2756+2254T>G | XP_011513934.1:n.2756+2254T>G | |
| XM_011515633.1:c.2624+2254T>G | XP_011513935.1:n.2624+2254T>G | |
| XM_011515634.1:c.2609+2254T>G | XP_011513936.1:n.2609+2254T>G | |
| XM_011515635.1:c.2699+2254T>G | XP_011513937.1:n.2699+2254T>G | |
| XM_011515636.1:c.2690+2254T>G | XP_011513938.1:n.2690+2254T>G | |
| XM_011515637.1:c.2690+2254T>G | XP_011513939.1:n.2690+2254T>G | |
| XM_011515638.1:c.2684+2254T>G | XP_011513940.1:n.2684+2254T>G | |
| XM_011515639.1:c.2684+2254T>G | XP_011513941.1:n.2684+2254T>G | |
| XM_011515640.1:c.2606+2254T>G | XP_011513942.1:n.2606+2254T>G | |
| XM_011515641.1:c.2606+2254T>G | XP_011513943.1:n.2606+2254T>G | |
| XM_011515642.1:c.2606+2254T>G | XP_011513944.1:n.2606+2254T>G | |
| XM_011515643.1:c.2606+2254T>G | XP_011513945.1:n.2606+2254T>G | |
| XM_011515644.1:c.2591+2254T>G | XP_011513946.1:n.2591+2254T>G | |
| XM_011515645.1:c.2591+2254T>G | XP_011513947.1:n.2591+2254T>G | |
| XM_011515646.1:c.2582+2254T>G | XP_011513948.1:n.2582+2254T>G | |
| XM_011515647.1:c.2756+2254T>G | XP_011513949.1:n.2756+2254T>G | |
| XM_011515648.1:c.2699+2254T>G | XP_011513950.1:n.2699+2254T>G | |
| XM_011515649.1:c.2699+2254T>G | XP_011513951.1:n.2699+2254T>G | |
| NM_001321868.1:c.2609+2254T>G | NP_001308797.1:n.2609+2254T>G | |
| NM_001321877.1:c.2552+2254T>G | NP_001308806.1:n.2552+2254T>G | |
| NM_001321897.1:c.2552+2254T>G | NP_001308826.1:n.2552+2254T>G | |
| NM_178423.2:c.2675+2254T>G | NP_848510.1:n.2675+2254T>G | |
| NM_178425.3:c.2684+2254T>G | NP_848512.1:n.2684+2254T>G | |
| NM_001321868.2:c.2609+2254T>G | NP_001308797.1:n.2609+2254T>G | |
| NM_001321877.2:c.2552+2254T>G | NP_001308806.1:n.2552+2254T>G | |
| NM_001321897.2:c.2552+2254T>G | NP_001308826.1:n.2552+2254T>G | |
| NM_178423.3:c.2675+2254T>G | NP_848510.1:n.2675+2254T>G | |
| NM_178425.4:c.2684+2254T>G MANE Select | NP_848512.1:n.2684+2254T>G |