Linked Data
dbSNP Id:
rs1378042685
gnomAD v2:
6-33617973-G-C
gnomAD v3:
6-33650196-G-C
gnomAD v4:
6-33650196-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33650196G>C , CM000668.2:g.33650196G>C | GRCh38 |
| NC_000006.11:g.33617973G>C , CM000668.1:g.33617973G>C | GRCh37 |
| NC_000006.10:g.33725951G>C | NCBI36 |
| NG_027729.1:g.33818G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.161-5570G>C MANE Select | ENSP00000475177.1:n.161-5570G>C | |
| ENST00000374316.9:c.161-5570G>C | ENSP00000363435.4:n.161-5570G>C | |
| ENST00000605930.2:c.161-5570G>C | ENSP00000475177.1:n.161-5570G>C | |
| NM_002224.3:c.161-5570G>C | NP_002215.2:n.161-5570G>C | |
| XM_011514576.1:c.230-5570G>C | XP_011512878.1:n.230-5570G>C | |
| XM_017010832.1:c.161-5570G>C | XP_016866321.1:n.161-5570G>C | |
| NM_002224.4:c.161-5570G>C MANE Select | NP_002215.2:n.161-5570G>C |