Linked Data
dbSNP Id:
rs752001542
ExAC:
3:49168256 C / G
gnomAD v2:
3-49168256-C-G
gnomAD v4:
3-49130823-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49130823C>G , CM000665.2:g.49130823C>G | GRCh38 |
| NC_000003.11:g.49168256C>G , CM000665.1:g.49168256C>G | GRCh37 |
| NC_000003.10:g.49143260C>G | NCBI36 |
| NG_008094.1:g.7344G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.953G>C MANE Select | ENSP00000307156.4:p.Gly318Ala | |
| ENST00000305544.8:c.953G>C | ENSP00000307156.4:p.Gly318Ala | |
| ENST00000418109.5:c.953G>C | ENSP00000388325.1:p.Gly318Ala | |
| NM_002292.3:c.953G>C | NP_002283.3:p.Gly318Ala | |
| XM_005265127.3:c.953G>C | XP_005265184.1:p.Gly318Ala | |
| XM_005265127.4:c.953G>C | XP_005265184.1:p.Gly318Ala | |
| NM_002292.4:c.953G>C MANE Select | NP_002283.3:p.Gly318Ala |