Linked Data
dbSNP Id:
rs756972141
ExAC:
8:42977494 A / C
gnomAD v2:
8-42977494-A-C
gnomAD v4:
8-43122351-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43122351A>C , CM000670.2:g.43122351A>C | GRCh38 |
| NC_000008.10:g.42977494A>C , CM000670.1:g.42977494A>C | GRCh37 |
| NC_000008.9:g.43096651A>C | NCBI36 |
| NG_033235.1:g.33846A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.527A>C MANE Select | ENSP00000331258.5:p.Gln176Pro | |
| ENST00000614426.2:c.*323A>C | ENSP00000478821.2:n.*323A>C | |
| ENST00000674646.1:c.245A>C | ENSP00000501703.1:p.Gln82Pro | |
| ENST00000674676.1:c.245A>C | ENSP00000502544.1:p.Gln82Pro | |
| ENST00000674782.1:c.*447A>C | ENSP00000501683.1:n.*447A>C | |
| ENST00000674937.1:c.485A>C | ENSP00000501823.1:p.Gln162Pro | |
| ENST00000675322.1:c.245A>C | ENSP00000502235.1:p.Gln82Pro | |
| ENST00000675675.1:c.245A>C | ENSP00000501793.1:p.Gln82Pro | |
| ENST00000676178.1:c.*312A>C | ENSP00000502007.1:n.*312A>C | |
| ENST00000676193.1:c.527A>C | ENSP00000502774.1:p.Gln176Pro | |
| ENST00000331373.9:c.527A>C | ENSP00000331258.5:p.Gln176Pro | |
| ENST00000614426.1:c.527A>C | ENSP00000478821.1:p.Gln176Pro | |
| NM_001277971.1:c.527A>C | NP_001264900.1:p.Gln176Pro | |
| NM_032237.4:c.527A>C | NP_115613.1:p.Gln176Pro | |
| XM_011544668.1:c.527A>C | XP_011542970.1:p.Gln176Pro | |
| XM_011544669.1:c.527A>C | XP_011542971.1:p.Gln176Pro | |
| NM_032237.5:c.527A>C MANE Select | NP_115613.1:p.Gln176Pro | |
| NM_001277971.2:c.527A>C | NP_001264900.1:p.Gln176Pro |