Linked Data
dbSNP Id:
rs1319988444
gnomAD v2:
2-73799768-A-G
gnomAD v3:
2-73572641-A-G
gnomAD v4:
2-73572641-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572641A>G , CM000664.2:g.73572641A>G | GRCh38 |
| NC_000002.11:g.73799768A>G , CM000664.1:g.73799768A>G | GRCh37 |
| NC_000002.10:g.73653276A>G | NCBI36 |
| NG_011690.1:g.191889A>G , LRG_741:g.191889A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10383A>G | ENSP00000507671.1:p.Pro3461= | |
| ENST00000682801.1:c.10383A>G | ENSP00000507862.1:p.Pro3461= | |
| ENST00000682859.1:c.10383A>G | ENSP00000508222.1:p.Pro3461= | |
| ENST00000683791.1:c.3469A>G | ||
| ENST00000684460.1:c.7664A>G | ||
| ENST00000684548.1:c.10383A>G | ENSP00000507421.1:p.Pro3461= | |
| ENST00000684590.1:c.4830A>G | ENSP00000507376.1:p.Pro1610= | |
| ENST00000684656.1:c.7709A>G | ||
| ENST00000613296.6:c.10764A>G MANE Select | ENSP00000482968.1:p.Pro3588= | |
| ENST00000651057.1:c.918A>G | ENSP00000498504.1:p.Pro306= | |
| ENST00000651434.1:c.2120A>G | ||
| ENST00000651750.1:c.152A>G | ||
| ENST00000652487.1:c.1861A>G | ||
| ENST00000423048.5:c.4255A>G | ENSP00000399833.1:n.4255A>G | |
| ENST00000484298.5:c.10638A>G | ENSP00000478155.1:p.Pro3546= | |
| ENST00000613296.4:c.10764A>G | ENSP00000482968.1:p.Pro3588= | |
| ENST00000614410.4:c.10764A>G | ENSP00000479094.1:p.Pro3588= | |
| ENST00000620466.4:n.4567A>G | ||
| NM_015120.4:c.10767A>G , LRG_741t1:c.10767A>G | NP_055935.4:p.Pro3589= | |
| NM_001378454.1:c.10764A>G MANE Select | NP_001365383.1:p.Pro3588= |