Linked Data
ClinVar Variation Id:
392663
dbSNP Id:
rs765380273
ExAC:
10:97387286 T / G
gnomAD v2:
10-97387286-T-G
gnomAD v3:
10-95627529-T-G
gnomAD v4:
10-95627529-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95627529T>G , CM000672.2:g.95627529T>G | GRCh38 |
| NC_000010.10:g.97387286T>G , CM000672.1:g.97387286T>G | GRCh37 |
| NC_000010.9:g.97377276T>G | NCBI36 |
| NG_012258.1:g.34282A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.7:c.991A>C MANE Select | ENSP00000360268.2:p.Thr331Pro | |
| ENST00000371221.3:c.985A>C | ENSP00000360265.3:p.Thr329Pro | |
| ENST00000371224.6:c.991A>C | ENSP00000360268.2:p.Thr331Pro | |
| ENST00000489386.1:n.356A>C | ||
| NM_001017423.1:c.985A>C | NP_001017423.1:p.Thr329Pro | |
| NM_002860.3:c.991A>C | NP_002851.2:p.Thr331Pro | |
| XM_006717933.1:c.991A>C | XP_006717996.1:p.Thr331Pro | |
| XM_011540001.1:c.658A>C | XP_011538303.1:p.Thr220Pro | |
| NM_001323412.1:c.658A>C | NP_001310341.1:p.Thr220Pro | |
| NM_001323413.1:c.991A>C | NP_001310342.1:p.Thr331Pro | |
| NM_001323414.1:c.991A>C | NP_001310343.1:p.Thr331Pro | |
| NM_001323415.1:c.985A>C | NP_001310344.1:p.Thr329Pro | |
| NM_001323416.1:c.658A>C | NP_001310345.1:p.Thr220Pro | |
| NM_001323417.1:c.886A>C | NP_001310346.1:p.Thr296Pro | |
| NM_001323418.1:c.652A>C | NP_001310347.1:p.Thr218Pro | |
| NM_001323419.1:c.355A>C | NP_001310348.1:p.Thr119Pro | |
| XM_024448094.1:c.991A>C | XP_024303862.1:p.Thr331Pro | |
| XM_024448095.1:c.991A>C | XP_024303863.1:p.Thr331Pro | |
| XM_024448096.1:c.985A>C | XP_024303864.1:p.Thr329Pro | |
| XM_024448097.1:c.658A>C | XP_024303865.1:p.Thr220Pro | |
| NM_002860.4:c.991A>C MANE Select | NP_002851.2:p.Thr331Pro | |
| NM_001017423.2:c.985A>C | NP_001017423.1:p.Thr329Pro | |
| NM_001323412.2:c.658A>C | NP_001310341.1:p.Thr220Pro | |
| NM_001323413.2:c.991A>C | NP_001310342.1:p.Thr331Pro | |
| NM_001323414.2:c.991A>C | NP_001310343.1:p.Thr331Pro | |
| NM_001323415.2:c.985A>C | NP_001310344.1:p.Thr329Pro | |
| NM_001323416.2:c.658A>C | NP_001310345.1:p.Thr220Pro | |
| NM_001323417.2:c.886A>C | NP_001310346.1:p.Thr296Pro | |
| NM_001323418.2:c.652A>C | NP_001310347.1:p.Thr218Pro | |
| NM_001323419.2:c.355A>C | NP_001310348.1:p.Thr119Pro |