Linked Data
dbSNP Id:
rs10986663
gnomAD v2:
9-127999501-A-G
gnomAD v3:
9-125237222-A-G
gnomAD v4:
9-125237222-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.125237222A>G , CM000671.2:g.125237222A>G | GRCh38 |
| NC_000009.11:g.127999501A>G , CM000671.1:g.127999501A>G | GRCh37 |
| NC_000009.10:g.127039322A>G | NCBI36 |
| NG_027761.1:g.9166T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324460.7:c.1403-68T>C MANE Select | ENSP00000324173.6:n.1403-68T>C | |
| ENST00000679355.1:n.1758-68T>C | ||
| ENST00000679475.1:n.1987-68T>C | ||
| ENST00000680032.1:c.1403-161T>C | ENSP00000506285.1:n.1403-161T>C | |
| ENST00000680234.1:n.2577T>C | ||
| ENST00000680257.1:n.1940-68T>C | ||
| ENST00000680272.1:c.1289-68T>C | ENSP00000506097.1:n.1289-68T>C | |
| ENST00000680494.1:n.3108-68T>C | ||
| ENST00000680640.1:n.2635-68T>C | ||
| ENST00000681045.1:n.2564-68T>C | ||
| ENST00000681424.1:n.2039-68T>C | ||
| ENST00000681540.1:n.2858T>C | ||
| ENST00000681544.1:n.1734-68T>C | ||
| ENST00000681675.1:n.2283-68T>C | ||
| ENST00000681774.1:n.2625-68T>C | ||
| ENST00000324460.6:c.1403-68T>C | ENSP00000324173.6:n.1403-68T>C | |
| NM_005347.4:c.1403-68T>C | NP_005338.1:n.1403-68T>C | |
| NM_005347.5:c.1403-68T>C MANE Select | NP_005338.1:n.1403-68T>C |