Linked Data
dbSNP Id:
rs763929172
ExAC:
11:68703883 T / C
gnomAD v2:
11-68703883-T-C
gnomAD v4:
11-68936415-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936415T>C , CM000673.2:g.68936415T>C | GRCh38 |
| NC_000011.9:g.68703883T>C , CM000673.1:g.68703883T>C | GRCh37 |
| NC_000011.8:g.68460459T>C | NCBI36 |
| NG_007976.1:g.37565T>C , LRG_250:g.37565T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1935T>C MANE Select | ENSP00000255078.4:p.Asp645= | |
| ENST00000674675.1:c.179T>C | ||
| ENST00000674878.1:c.179T>C | ||
| ENST00000674955.1:c.*652T>C | ENSP00000502463.1:n.*652T>C | |
| ENST00000675118.1:c.1423T>C | ||
| ENST00000675389.1:n.210T>C | ||
| ENST00000675615.1:c.1935T>C | ENSP00000502413.1:p.Asp645= | |
| ENST00000675648.1:n.1310T>C | ||
| ENST00000675916.1:c.179T>C | ||
| ENST00000676173.1:n.2680T>C | ||
| ENST00000676182.1:c.366T>C | ||
| ENST00000676228.1:c.*1258T>C | ENSP00000502375.1:n.*1258T>C | |
| ENST00000255078.7:c.1935T>C | ENSP00000255078.3:p.Asp645= | |
| ENST00000539064.5:n.1694T>C | ||
| ENST00000543739.5:n.928T>C | ||
| ENST00000545475.1:n.531T>C | ||
| NM_002180.2:c.1935T>C , LRG_250t1:c.1935T>C | NP_002171.2:p.Asp645= | |
| XM_005273974.2:c.924T>C | XP_005274031.1:p.Asp308= | |
| XM_005273975.2:c.807T>C | XP_005274032.1:p.Asp269= | |
| XM_011544994.1:c.702T>C | XP_011543296.1:p.Asp234= | |
| XR_949903.1:n.2037T>C | ||
| XM_005273975.3:c.807T>C | XP_005274032.1:p.Asp269= | |
| XM_017017669.2:c.924T>C | XP_016873158.1:p.Asp308= | |
| XM_017017670.2:c.924T>C | XP_016873159.1:p.Asp308= | |
| XR_949903.3:n.2033T>C | ||
| NM_002180.3:c.1935T>C MANE Select | NP_002171.2:p.Asp645= |