Linked Data
dbSNP Id:
rs749872228
gnomAD v2:
1-218614746-G-C
gnomAD v4:
1-218441404-G-C
MyVariant Identifiers:
chr1:g.218614746_218614749delinsCATA (hg19)
chr1:g.218441404_218441407delinsCATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218441404G>C , CM000663.2:g.218441404G>C | GRCh38 |
| NC_000001.10:g.218614746G>C , CM000663.1:g.218614746G>C | GRCh37 |
| NC_000001.9:g.216681369G>C | NCBI36 |
| NG_027721.1:g.101071G>C | |
| NG_027721.2:g.101071G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.*42G>C MANE Select | ENSP00000355897.4:n.*42G>C | |
| ENST00000366929.4:c.*42G>C | ENSP00000355896.4:n.*42G>C | |
| ENST00000366930.8:c.*42G>C | ENSP00000355897.4:n.*42G>C | |
| ENST00000479322.1:n.771G>C | ||
| NM_001135599.2:c.*42G>C | NP_001129071.1:n.*42G>C | |
| NM_003238.3:c.*42G>C | NP_003229.1:n.*42G>C | |
| NM_001135599.3:c.*42G>C | NP_001129071.1:n.*42G>C | |
| NM_003238.4:c.*42G>C | NP_003229.1:n.*42G>C | |
| NR_138148.1:n.2590G>C | ||
| NR_138149.1:n.2674G>C | ||
| NM_003238.5:c.*42G>C | NP_003229.1:n.*42G>C | |
| NM_003238.6:c.*42G>C MANE Select | NP_003229.1:n.*42G>C | |
| NM_001135599.4:c.*42G>C | NP_001129071.1:n.*42G>C | |
| NR_138148.2:n.2538G>C | ||
| NR_138149.2:n.2622G>C |