Linked Data
dbSNP Id:
rs370995723
ExAC:
3:30713745 G / C
gnomAD v2:
3-30713745-G-C
gnomAD v3:
3-30672253-G-C
gnomAD v4:
3-30672253-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672253G>C , CM000665.2:g.30672253G>C | GRCh38 |
| NC_000003.11:g.30713745G>C , CM000665.1:g.30713745G>C | GRCh37 |
| NC_000003.10:g.30688749G>C | NCBI36 |
| NG_007490.1:g.70752G>C , LRG_779:g.70752G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1070G>C MANE Select | ENSP00000295754.5:p.Gly357Ala | |
| ENST00000672866.1:n.2666G>C | ||
| ENST00000295754.9:c.1070G>C | ENSP00000295754.5:p.Gly357Ala | |
| ENST00000359013.4:c.1145G>C | ENSP00000351905.4:p.Gly382Ala | |
| NM_001024847.2:c.1145G>C , LRG_779t1:c.1145G>C | NP_001020018.1:p.Gly382Ala | |
| NM_003242.5:c.1070G>C | NP_003233.4:p.Gly357Ala | |
| XM_011534043.1:c.1097G>C | XP_011532345.1:p.Gly366Ala | |
| XM_011534044.1:c.1022G>C | XP_011532346.1:p.Gly341Ala | |
| XM_011534045.1:c.965G>C | XP_011532347.1:p.Gly322Ala | |
| XM_011534043.2:c.1097G>C | XP_011532345.1:p.Gly366Ala | |
| XM_011534045.3:c.965G>C | XP_011532347.1:p.Gly322Ala | |
| XM_017007106.1:c.965G>C | XP_016862595.1:p.Gly322Ala | |
| NM_003242.6:c.1070G>C MANE Select | NP_003233.4:p.Gly357Ala |