Linked Data
ClinVar Variation Id:
2117437
ClinVar RCV Id:
RCV003039198
dbSNP Id:
rs201213548
gnomAD v2:
8-55540538-G-C
gnomAD v4:
8-54627978-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54627978G>C , CM000670.2:g.54627978G>C | GRCh38 |
| NC_000008.10:g.55540538G>C , CM000670.1:g.55540538G>C | GRCh37 |
| NC_000008.9:g.55703091G>C | NCBI36 |
| NG_009840.1:g.16912G>C | |
| NG_009840.2:g.16912G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220676.2:c.4096G>C MANE Select | ENSP00000220676.1:p.Asp1366His | |
| ENST00000636932.1:c.787+5690G>C | ENSP00000489857.1:n.787+5690G>C | |
| ENST00000637698.1:c.787+5690G>C | ENSP00000490104.1:n.787+5690G>C | |
| ENST00000220676.1:c.4096G>C | ENSP00000220676.1:p.Asp1366His | |
| NM_006269.1:c.4096G>C | NP_006260.1:p.Asp1366His | |
| XM_017013721.1:c.4117G>C | XP_016869210.1:p.Asp1373His | |
| XM_017013722.1:c.4096G>C | XP_016869211.1:p.Asp1366His | |
| NM_001375654.1:c.787+5690G>C | NP_001362583.1:n.787+5690G>C | |
| NM_006269.2:c.4096G>C MANE Select | NP_006260.1:p.Asp1366His |