Linked Data
dbSNP Id:
rs715948
gnomAD v2:
12-57532982-T-C
gnomAD v3:
12-57139199-T-C
gnomAD v4:
12-57139199-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57139199T>C , CM000674.2:g.57139199T>C | GRCh38 |
| NC_000012.11:g.57532982T>C , CM000674.1:g.57532982T>C | GRCh37 |
| NC_000012.10:g.55819249T>C | NCBI36 |
| NG_016444.1:g.15701T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243077.8:c.190+618T>C MANE Select | ENSP00000243077.3:n.190+618T>C | |
| ENST00000243077.7:c.190+618T>C | ENSP00000243077.3:n.190+618T>C | |
| ENST00000338962.8:c.190+618T>C | ENSP00000341264.4:n.190+618T>C | |
| ENST00000553277.5:c.190+618T>C | ENSP00000451449.1:n.190+618T>C | |
| ENST00000554174.1:c.190+618T>C | ENSP00000451737.1:n.190+618T>C | |
| NM_002332.2:c.190+618T>C | NP_002323.2:n.190+618T>C | |
| XM_017019303.1:c.190+618T>C | XP_016874792.1:n.190+618T>C | |
| NM_002332.3:c.190+618T>C MANE Select | NP_002323.2:n.190+618T>C |