Linked Data
ClinVar Variation Id:
301758
dbSNP Id:
rs375782465
ExAC:
10:97371000 T / C
gnomAD v2:
10-97371000-T-C
gnomAD v3:
10-95611243-T-C
gnomAD v4:
10-95611243-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95611243T>C , CM000672.2:g.95611243T>C | GRCh38 |
| NC_000010.10:g.97371000T>C , CM000672.1:g.97371000T>C | GRCh37 |
| NC_000010.9:g.97360990T>C | NCBI36 |
| NG_012258.1:g.50568A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.7:c.2110+13A>G MANE Select | ENSP00000360268.2:n.2110+13A>G | |
| ENST00000371221.3:c.2104+13A>G | ENSP00000360265.3:n.2104+13A>G | |
| ENST00000371224.6:c.2110+13A>G | ENSP00000360268.2:n.2110+13A>G | |
| NM_001017423.1:c.2104+13A>G | NP_001017423.1:n.2104+13A>G | |
| NM_002860.3:c.2110+13A>G | NP_002851.2:n.2110+13A>G | |
| XM_006717933.1:c.2110+13A>G | XP_006717996.1:n.2110+13A>G | |
| XM_011540001.1:c.1777+13A>G | XP_011538303.1:n.1777+13A>G | |
| NM_001323412.1:c.1777+13A>G | NP_001310341.1:n.1777+13A>G | |
| NM_001323413.1:c.2110+13A>G | NP_001310342.1:n.2110+13A>G | |
| NM_001323414.1:c.2110+13A>G | NP_001310343.1:n.2110+13A>G | |
| NM_001323415.1:c.2104+13A>G | NP_001310344.1:n.2104+13A>G | |
| NM_001323416.1:c.1777+13A>G | NP_001310345.1:n.1777+13A>G | |
| NM_001323417.1:c.2005+13A>G | NP_001310346.1:n.2005+13A>G | |
| NM_001323418.1:c.1771+13A>G | NP_001310347.1:n.1771+13A>G | |
| NM_001323419.1:c.1474+13A>G | NP_001310348.1:n.1474+13A>G | |
| XM_024448094.1:c.2212+13A>G | XP_024303862.1:n.2212+13A>G | |
| XM_024448095.1:c.2212+13A>G | XP_024303863.1:n.2212+13A>G | |
| XM_024448096.1:c.2206+13A>G | XP_024303864.1:n.2206+13A>G | |
| XM_024448097.1:c.1879+13A>G | XP_024303865.1:n.1879+13A>G | |
| NM_002860.4:c.2110+13A>G MANE Select | NP_002851.2:n.2110+13A>G | |
| NM_001017423.2:c.2104+13A>G | NP_001017423.1:n.2104+13A>G | |
| NM_001323412.2:c.1777+13A>G | NP_001310341.1:n.1777+13A>G | |
| NM_001323413.2:c.2110+13A>G | NP_001310342.1:n.2110+13A>G | |
| NM_001323414.2:c.2110+13A>G | NP_001310343.1:n.2110+13A>G | |
| NM_001323415.2:c.2104+13A>G | NP_001310344.1:n.2104+13A>G | |
| NM_001323416.2:c.1777+13A>G | NP_001310345.1:n.1777+13A>G | |
| NM_001323417.2:c.2005+13A>G | NP_001310346.1:n.2005+13A>G | |
| NM_001323418.2:c.1771+13A>G | NP_001310347.1:n.1771+13A>G | |
| NM_001323419.2:c.1474+13A>G | NP_001310348.1:n.1474+13A>G |