Linked Data
ClinVar Variation Id:
476975
dbSNP Id:
rs368067072
ExAC:
19:40899926 T / C
gnomAD v2:
19-40899926-T-C
gnomAD v3:
19-40394019-T-C
gnomAD v4:
19-40394019-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40394019T>C , CM000681.2:g.40394019T>C | GRCh38 |
| NC_000019.9:g.40899926T>C , CM000681.1:g.40899926T>C | GRCh37 |
| NC_000019.8:g.45591766T>C | NCBI36 |
| NG_007979.1:g.24346A>G , LRG_265:g.24346A>G | |
| NG_051224.1:g.1203A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.4333A>G MANE Select | ENSP00000326018.6:p.Thr1445Ala | |
| ENST00000673881.1:c.3916A>G | ENSP00000501070.1:p.Thr1306Ala | |
| ENST00000674005.2:c.4618A>G | ENSP00000501261.1:p.Thr1540Ala | |
| ENST00000674773.1:c.3916A>G | ENSP00000502579.1:p.Thr1306Ala | |
| ENST00000675517.1:c.4208A>G | ||
| ENST00000676076.1:c.4194A>G | ||
| ENST00000676260.1:c.4295A>G | ||
| ENST00000676316.1:c.4220A>G | ||
| ENST00000291825.11:c.*4538A>G | ENSP00000291825.6:n.*4538A>G | |
| ENST00000324001.7:c.4333A>G | ENSP00000326018.6:p.Thr1445Ala | |
| NM_020956.2:c.*4538A>G , LRG_265t1:c.*4538A>G | NP_066007.1:n.*4538A>G | |
| NM_181882.2:c.4333A>G , LRG_265t2:c.4333A>G | NP_870998.2:p.Thr1445Ala | |
| XM_011527171.1:c.4333A>G | XP_011525473.1:p.Thr1445Ala | |
| XM_011527171.2:c.4333A>G | XP_011525473.1:p.Thr1445Ala | |
| XM_017027046.1:c.4231A>G | XP_016882535.1:p.Thr1411Ala | |
| XM_017027047.1:c.4231A>G | XP_016882536.1:p.Thr1411Ala | |
| NM_181882.3:c.4333A>G MANE Select | NP_870998.2:p.Thr1445Ala |