Linked Data
ClinVar Variation Id:
1545785
ClinVar RCV Id:
RCV002168176
dbSNP Id:
rs756486534
ExAC:
7:55219074 T / C
gnomAD v2:
7-55219074-T-C
gnomAD v3:
7-55151381-T-C
gnomAD v4:
7-55151381-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55151381T>C , CM000669.2:g.55151381T>C | GRCh38 |
| NC_000007.13:g.55219074T>C , CM000669.1:g.55219074T>C | GRCh37 |
| NC_000007.12:g.55186568T>C | NCBI36 |
| NG_007726.3:g.137350T>C , LRG_304:g.137350T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.469+19T>C | ENSP00000413354.2:n.469+19T>C | |
| ENST00000700144.1:n.818+19T>C | ||
| ENST00000344576.7:c.628+19T>C | ENSP00000345973.2:n.628+19T>C | |
| ENST00000275493.7:c.628+19T>C MANE Select | ENSP00000275493.2:n.628+19T>C | |
| ENST00000275493.6:c.628+19T>C | ENSP00000275493.2:n.628+19T>C | |
| ENST00000342916.7:c.628+19T>C | ENSP00000342376.3:n.628+19T>C | |
| ENST00000344576.6:c.628+19T>C | ENSP00000345973.2:n.628+19T>C | |
| ENST00000420316.6:c.628+19T>C | ENSP00000413843.2:n.628+19T>C | |
| ENST00000442591.5:c.628+19T>C | ENSP00000410031.1:n.628+19T>C | |
| ENST00000454757.6:c.493+19T>C | ENSP00000395243.3:n.493+19T>C | |
| ENST00000455089.5:c.493+19T>C | ENSP00000415559.1:n.493+19T>C | |
| NM_005228.3:c.628+19T>C , LRG_304t1:c.628+19T>C | NP_005219.2:n.628+19T>C | |
| NM_201282.1:c.628+19T>C | NP_958439.1:n.628+19T>C | |
| NM_201283.1:c.628+19T>C | NP_958440.1:n.628+19T>C | |
| NM_201284.1:c.628+19T>C | NP_958441.1:n.628+19T>C | |
| NM_001346897.1:c.493+19T>C | NP_001333826.1:n.493+19T>C | |
| NM_001346898.1:c.628+19T>C | NP_001333827.1:n.628+19T>C | |
| NM_001346899.1:c.493+19T>C | NP_001333828.1:n.493+19T>C | |
| NM_001346900.1:c.469+19T>C | NP_001333829.1:n.469+19T>C | |
| NM_001346941.1:c.89-4449T>C | NP_001333870.1:n.89-4449T>C | |
| NM_005228.4:c.628+19T>C | NP_005219.2:n.628+19T>C | |
| NM_005228.5:c.628+19T>C MANE Select | NP_005219.2:n.628+19T>C | |
| NM_001346897.2:c.493+19T>C | NP_001333826.1:n.493+19T>C | |
| NM_001346898.2:c.628+19T>C | NP_001333827.1:n.628+19T>C | |
| NM_001346900.2:c.469+19T>C | NP_001333829.1:n.469+19T>C | |
| NM_001346941.2:c.89-4449T>C | NP_001333870.1:n.89-4449T>C | |
| NM_201282.2:c.628+19T>C | NP_958439.1:n.628+19T>C | |
| NM_201284.2:c.628+19T>C | NP_958441.1:n.628+19T>C | |
| NM_001346899.2:c.493+19T>C | NP_001333828.1:n.493+19T>C | |
| NM_201283.2:c.628+19T>C | NP_958440.1:n.628+19T>C |