Linked Data
dbSNP Id:
rs1193702202
gnomAD v2:
13-26789071-C-G
gnomAD v3:
13-26214934-C-G
gnomAD v4:
13-26214934-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.26214934C>G , CM000675.2:g.26214934C>G | GRCh38 |
| NC_000013.10:g.26789071C>G , CM000675.1:g.26789071C>G | GRCh37 |
| NC_000013.9:g.25687071C>G | NCBI36 |
| NG_017042.1:g.12438G>C | |
| NG_017042.2:g.12438G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381588.9:c.948G>C MANE Select | ENSP00000371000.4:p.Gln316His | |
| ENST00000346166.7:c.948G>C | ENSP00000342121.3:p.Gln316His | |
| ENST00000381570.7:c.948G>C | ENSP00000370982.3:p.Gln316His | |
| ENST00000381588.8:c.948G>C | ENSP00000371000.4:p.Gln316His | |
| ENST00000468480.5:n.768+540G>C | ||
| NM_005977.3:c.948G>C | NP_005968.1:p.Gln316His | |
| NM_183043.2:c.948G>C | NP_898864.1:p.Gln316His | |
| NM_183044.2:c.948G>C | NP_898865.1:p.Gln316His | |
| NM_183045.1:c.408+540G>C | NP_898866.1:n.408+540G>C | |
| XM_005266485.1:c.948G>C | XP_005266542.1:p.Gln316His | |
| XM_005266486.1:c.948G>C | XP_005266543.1:p.Gln316His | |
| XM_011535177.1:c.948G>C | XP_011533479.1:p.Gln316His | |
| XM_011535178.1:c.408+540G>C | XP_011533480.1:n.408+540G>C | |
| XM_005266485.3:c.948G>C | XP_005266542.1:p.Gln316His | |
| XM_005266486.2:c.948G>C | XP_005266543.1:p.Gln316His | |
| XM_011535177.3:c.948G>C | XP_011533479.1:p.Gln316His | |
| XM_011535178.2:c.408+540G>C | XP_011533480.1:n.408+540G>C | |
| XM_017020685.2:c.409-165G>C | XP_016876174.1:n.409-165G>C | |
| XM_017020686.1:c.409-165G>C | XP_016876175.1:n.409-165G>C | |
| XM_017020687.1:c.409-165G>C | XP_016876176.1:n.409-165G>C | |
| XM_024449390.1:c.948G>C | XP_024305158.1:p.Gln316His | |
| XM_024449391.1:c.409-165G>C | XP_024305159.1:n.409-165G>C | |
| XM_024449392.1:c.409-165G>C | XP_024305160.1:n.409-165G>C | |
| NM_005977.4:c.948G>C MANE Select | NP_005968.1:p.Gln316His | |
| NM_183043.3:c.948G>C | NP_898864.1:p.Gln316His | |
| NM_183044.3:c.948G>C | NP_898865.1:p.Gln316His |