Linked Data
ClinVar Variation Id:
1118240
ClinVar RCV Id:
RCV001447264
dbSNP Id:
rs761173579
ExAC:
7:107342328 T / C
gnomAD v2:
7-107342328-T-C
gnomAD v4:
7-107701883-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701883T>C , CM000669.2:g.107701883T>C | GRCh38 |
| NC_000007.13:g.107342328T>C , CM000669.1:g.107342328T>C | GRCh37 |
| NC_000007.12:g.107129564T>C | NCBI36 |
| NG_008489.1:g.46249T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1860T>C MANE Select | ENSP00000494017.1:p.Asp620= | |
| ENST00000644846.1:c.571T>C | ||
| ENST00000265715.7:c.1860T>C | ENSP00000265715.3:p.Asp620= | |
| ENST00000480841.5:n.709T>C | ||
| ENST00000492030.2:n.147T>C | ||
| NM_000441.1:c.1860T>C | NP_000432.1:p.Asp620= | |
| XM_005250425.1:c.1860T>C | XP_005250482.1:p.Asp620= | |
| XM_005250425.2:c.1860T>C | XP_005250482.1:p.Asp620= | |
| XM_017012318.1:c.1782T>C | XP_016867807.1:p.Asp594= | |
| NM_000441.2:c.1860T>C MANE Select | NP_000432.1:p.Asp620= |