Linked Data
ClinVar Variation Id:
1305814
ClinVar RCV Id:
RCV001770606
dbSNP Id:
rs781620744
gnomAD v2:
18-10762608-T-C
gnomAD v3:
18-10762610-T-C
gnomAD v4:
18-10762610-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10762610T>C , CM000680.2:g.10762610T>C | GRCh38 |
| NC_000018.9:g.10762608T>C , CM000680.1:g.10762608T>C | GRCh37 |
| NC_000018.8:g.10752608T>C | NCBI36 |
| NG_034005.1:g.391153A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.3139A>G | ENSP00000372900.4:p.Thr1047Ala | |
| ENST00000686869.1:n.3196A>G | ||
| ENST00000674853.1:c.3139A>G MANE Select | ENSP00000501957.1:p.Thr1047Ala | |
| ENST00000302079.10:c.3064A>G | ENSP00000303316.6:p.Thr1022Ala | |
| ENST00000383408.6:c.2917A>G | ENSP00000372900.3:p.Thr973Ala | |
| ENST00000503781.7:c.3064A>G | ENSP00000421377.3:p.Thr1022Ala | |
| ENST00000580640.5:c.3139A>G | ENSP00000463094.1:p.Thr1047Ala | |
| ENST00000582913.5:c.3106A>G | ENSP00000462115.1:p.Thr1036Ala | |
| NM_022068.3:c.3064A>G | NP_071351.2:p.Thr1022Ala | |
| XM_011525723.1:c.3196A>G | XP_011524025.1:p.Thr1066Ala | |
| XM_011525724.1:c.3139A>G | XP_011524026.1:p.Thr1047Ala | |
| XM_011525725.1:c.3106A>G | XP_011524027.1:p.Thr1036Ala | |
| XM_011525726.1:c.3196A>G | XP_011524028.1:p.Thr1066Ala | |
| XM_011525727.1:c.3196A>G | XP_011524029.1:p.Thr1066Ala | |
| XM_011525723.3:c.3196A>G | XP_011524025.1:p.Thr1066Ala | |
| XM_011525724.3:c.3139A>G | XP_011524026.1:p.Thr1047Ala | |
| XM_011525725.3:c.3106A>G | XP_011524027.1:p.Thr1036Ala | |
| XM_011525726.3:c.3196A>G | XP_011524028.1:p.Thr1066Ala | |
| XM_017025918.2:c.3157A>G | XP_016881407.1:p.Thr1053Ala | |
| XR_001753259.2:n.4193A>G | ||
| NM_001378183.1:c.3139A>G MANE Select | NP_001365112.1:p.Thr1047Ala | |
| NM_022068.4:c.3064A>G | NP_071351.2:p.Thr1022Ala |