Linked Data
dbSNP Id:
rs775853823
ExAC:
7:44190513 G / C
gnomAD v2:
7-44190513-G-C
gnomAD v3:
7-44150914-G-C
gnomAD v4:
7-44150914-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44150914G>C , CM000669.2:g.44150914G>C | GRCh38 |
| NC_000007.13:g.44190513G>C , CM000669.1:g.44190513G>C | GRCh37 |
| NC_000007.12:g.44157038G>C | NCBI36 |
| NG_008847.1:g.43510C>G | |
| NG_008847.2:g.52257C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*481+42C>G | ENSP00000379142.4:n.*481+42C>G | |
| ENST00000616242.5:c.483+42C>G | ENSP00000482149.2:n.483+42C>G | |
| ENST00000682635.1:n.969+42C>G | ||
| ENST00000345378.7:c.486+42C>G | ENSP00000223366.2:n.486+42C>G | |
| ENST00000403799.8:c.483+42C>G MANE Select | ENSP00000384247.3:n.483+42C>G | |
| ENST00000671824.1:c.483+42C>G | ENSP00000500264.1:n.483+42C>G | |
| ENST00000673284.1:c.483+42C>G | ENSP00000499852.1:n.483+42C>G | |
| ENST00000345378.6:c.486+42C>G | ENSP00000223366.2:n.486+42C>G | |
| ENST00000395796.7:c.480+42C>G | ENSP00000379142.3:n.480+42C>G | |
| ENST00000403799.7:c.483+42C>G | ENSP00000384247.3:n.483+42C>G | |
| ENST00000437084.1:c.432+42C>G | ENSP00000402840.1:n.432+42C>G | |
| ENST00000616242.4:c.480+42C>G | ENSP00000482149.1:n.480+42C>G | |
| NM_000162.3:c.483+42C>G | NP_000153.1:n.483+42C>G | |
| NM_033507.1:c.486+42C>G | NP_277042.1:n.486+42C>G | |
| NM_033508.1:c.480+42C>G | NP_277043.1:n.480+42C>G | |
| NM_000162.4:c.483+42C>G | NP_000153.1:n.483+42C>G | |
| NM_001354800.1:c.483+42C>G | NP_001341729.1:n.483+42C>G | |
| NM_033507.2:c.486+42C>G | NP_277042.1:n.486+42C>G | |
| NM_033508.2:c.480+42C>G | NP_277043.1:n.480+42C>G | |
| NM_000162.5:c.483+42C>G MANE Select | NP_000153.1:n.483+42C>G | |
| NM_033507.3:c.486+42C>G | NP_277042.1:n.486+42C>G | |
| NM_033508.3:c.480+42C>G | NP_277043.1:n.480+42C>G |