Linked Data
dbSNP Id:
rs999647083
gnomAD v2:
4-123535054-G-C
gnomAD v3:
4-122613899-G-C
gnomAD v4:
4-122613899-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122613899G>C , CM000666.2:g.122613899G>C | GRCh38 |
| NC_000004.11:g.123535054G>C , CM000666.1:g.123535054G>C | GRCh37 |
| NC_000004.10:g.123754504G>C | NCBI36 |
| NG_031966.1:g.12159C>G | |
| NG_031966.2:g.12168C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000611104.2:c.361-971C>G | ENSP00000477555.1:n.361-971C>G | |
| ENST00000647784.1:n.213-971C>G | ||
| ENST00000648588.1:c.361-971C>G MANE Select | ENSP00000497915.1:n.361-971C>G | |
| ENST00000264497.7:c.361-971C>G | ENSP00000264497.3:n.361-971C>G | |
| ENST00000611104.1:c.361-971C>G | ENSP00000477555.1:n.361-971C>G | |
| NM_001207006.2:c.361-971C>G | NP_001193935.1:n.361-971C>G | |
| NM_021803.3:c.361-971C>G | NP_068575.1:n.361-971C>G | |
| NM_021803.4:c.361-971C>G MANE Select | NP_068575.1:n.361-971C>G | |
| NM_001207006.3:c.361-971C>G | NP_001193935.1:n.361-971C>G |