Linked Data
ClinVar Variation Id:
329252
dbSNP Id:
rs757247849
ExAC:
19:40900410 T / C
gnomAD v2:
19-40900410-T-C
gnomAD v4:
19-40394503-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40394503T>C , CM000681.2:g.40394503T>C | GRCh38 |
| NC_000019.9:g.40900410T>C , CM000681.1:g.40900410T>C | GRCh37 |
| NC_000019.8:g.45592250T>C | NCBI36 |
| NG_007979.1:g.23862A>G , LRG_265:g.23862A>G | |
| NG_051224.1:g.719A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.3849A>G MANE Select | ENSP00000326018.6:p.Pro1283= | |
| ENST00000673881.1:c.3432A>G | ENSP00000501070.1:p.Pro1144= | |
| ENST00000674005.2:c.4134A>G | ENSP00000501261.1:p.Pro1378= | |
| ENST00000674773.1:c.3432A>G | ENSP00000502579.1:p.Pro1144= | |
| ENST00000675517.1:c.3724A>G | ||
| ENST00000676076.1:c.3710A>G | ||
| ENST00000676260.1:c.3811A>G | ||
| ENST00000676316.1:c.3736A>G | ||
| ENST00000291825.11:c.*4054A>G | ENSP00000291825.6:n.*4054A>G | |
| ENST00000324001.7:c.3849A>G | ENSP00000326018.6:p.Pro1283= | |
| NM_020956.2:c.*4054A>G , LRG_265t1:c.*4054A>G | NP_066007.1:n.*4054A>G | |
| NM_181882.2:c.3849A>G , LRG_265t2:c.3849A>G | NP_870998.2:p.Pro1283= | |
| XM_011527171.1:c.3849A>G | XP_011525473.1:p.Pro1283= | |
| XM_011527171.2:c.3849A>G | XP_011525473.1:p.Pro1283= | |
| XM_017027046.1:c.3747A>G | XP_016882535.1:p.Pro1249= | |
| XM_017027047.1:c.3747A>G | XP_016882536.1:p.Pro1249= | |
| NM_181882.3:c.3849A>G MANE Select | NP_870998.2:p.Pro1283= |