Linked Data
dbSNP Id:
rs1381418920
gnomAD v2:
11-111965329-A-C
gnomAD v3:
11-112094605-A-C
gnomAD v4:
11-112094605-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094605A>C , CM000673.2:g.112094605A>C | GRCh38 |
| NC_000011.9:g.111965329A>C , CM000673.1:g.111965329A>C | GRCh37 |
| NC_000011.8:g.111470539A>C | NCBI36 |
| NG_012337.2:g.12759A>C | |
| NG_012337.3:g.12759A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.*54-200A>C | ENSP00000432946.2:n.*54-200A>C | |
| ENST00000534010.2:c.314+5594A>C | ENSP00000433202.2:n.314+5594A>C | |
| ENST00000375549.8:c.315-200A>C MANE Select | ENSP00000364699.3:n.315-200A>C | |
| ENST00000528021.6:c.314+5594A>C | ENSP00000432465.1:n.314+5594A>C | |
| ENST00000375549.7:c.315-200A>C | ENSP00000364699.3:n.315-200A>C | |
| ENST00000525291.5:c.198-200A>C | ENSP00000436669.1:n.198-200A>C | |
| ENST00000525987.5:n.319+5594A>C | ||
| ENST00000526592.5:c.*13-200A>C | ENSP00000432005.1:n.*13-200A>C | |
| ENST00000528021.5:c.314+5594A>C | ENSP00000432465.1:n.314+5594A>C | |
| ENST00000528048.5:c.170-200A>C | ENSP00000436217.1:n.170-200A>C | |
| ENST00000528182.5:c.308-200A>C | ENSP00000435475.1:n.308-200A>C | |
| ENST00000530923.5:c.359-200A>C | ||
| ENST00000531744.5:c.314+5594A>C | ENSP00000456957.1:n.314+5594A>C | |
| ENST00000532699.1:c.314+5594A>C | ENSP00000456434.1:n.314+5594A>C | |
| ENST00000534010.1:c.145+5594A>C | ||
| NM_001276503.1:c.170-200A>C | NP_001263432.1:n.170-200A>C | |
| NM_001276504.1:c.198-200A>C | NP_001263433.1:n.198-200A>C | |
| NM_001276506.1:c.*13-200A>C | NP_001263435.1:n.*13-200A>C | |
| NM_003002.3:c.315-200A>C | NP_002993.1:n.315-200A>C | |
| NR_077060.1:n.453-200A>C | ||
| NM_003002.4:c.315-200A>C MANE Select | NP_002993.1:n.315-200A>C | |
| NM_001276503.2:c.170-200A>C | NP_001263432.1:n.170-200A>C | |
| NM_001276504.2:c.198-200A>C | NP_001263433.1:n.198-200A>C | |
| NM_001276506.2:c.*13-200A>C | NP_001263435.1:n.*13-200A>C | |
| NR_077060.2:n.404-200A>C |