Linked Data
dbSNP Id:
rs761419476
ExAC:
11:47436684 T / C
gnomAD v2:
11-47436684-T-C
gnomAD v3:
11-47415133-T-C
gnomAD v4:
11-47415133-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47415133T>C , CM000673.2:g.47415133T>C | GRCh38 |
| NC_000011.9:g.47436684T>C , CM000673.1:g.47436684T>C | GRCh37 |
| NC_000011.8:g.47393260T>C | NCBI36 |
| NG_017073.1:g.11639T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362021.9:c.1014T>C MANE Select | ENSP00000354689.4:p.Pro338= | |
| ENST00000354884.8:c.993T>C | ENSP00000346956.4:p.Pro331= | |
| ENST00000362021.8:c.1014T>C | ENSP00000354689.4:p.Pro338= | |
| ENST00000524886.1:n.272T>C | ||
| ENST00000524928.1:c.*1216T>C | ENSP00000437186.1:n.*1216T>C | |
| ENST00000527829.1:n.246T>C | ||
| ENST00000533076.5:c.*11T>C | ENSP00000434290.1:n.*11T>C | |
| NM_001128225.2:c.1014T>C | NP_001121697.1:p.Pro338= | |
| NM_152264.4:c.993T>C | NP_689477.2:p.Pro331= | |
| XM_006718381.2:c.1038T>C | XP_006718444.1:p.Pro346= | |
| XM_006718383.2:c.930T>C | XP_006718446.1:p.Pro310= | |
| XM_006718384.2:c.*11T>C | XP_006718447.1:n.*11T>C | |
| XM_006718385.2:c.*11T>C | XP_006718448.1:n.*11T>C | |
| XM_011520466.1:c.1059T>C | XP_011518768.1:p.Pro353= | |
| XM_011520467.1:c.1014T>C | XP_011518769.1:p.Pro338= | |
| XM_011520468.1:c.1014T>C | XP_011518770.1:p.Pro338= | |
| XM_011520469.1:c.951T>C | XP_011518771.1:p.Pro317= | |
| XM_011520470.1:c.906T>C | XP_011518772.1:p.Pro302= | |
| XR_242832.1:n.1399T>C | ||
| XR_428862.2:n.1074T>C | ||
| XR_428863.2:n.1070T>C | ||
| XR_930928.1:n.1095T>C | ||
| NM_001330245.1:c.*11T>C | NP_001317174.1:n.*11T>C | |
| NR_134854.1:n.1255T>C | ||
| XM_006718381.3:c.1038T>C | XP_006718444.1:p.Pro346= | |
| XM_006718383.3:c.930T>C | XP_006718446.1:p.Pro310= | |
| XM_011520468.3:c.1014T>C | XP_011518770.1:p.Pro338= | |
| XM_011520470.2:c.906T>C | XP_011518772.1:p.Pro302= | |
| XM_017018540.2:c.993T>C | XP_016874029.1:p.Pro331= | |
| XM_017018541.2:c.885T>C | XP_016874030.1:p.Pro295= | |
| XM_024448762.1:c.1143T>C | XP_024304530.1:p.Pro381= | |
| XR_001748027.1:n.1214T>C | ||
| XR_001748028.1:n.1196T>C | ||
| XR_428862.3:n.1074T>C | ||
| XR_428863.3:n.1070T>C | ||
| XR_930928.2:n.1095T>C | ||
| NM_001128225.3:c.1014T>C MANE Select | NP_001121697.2:p.Pro338= | |
| NM_001330245.2:c.*11T>C | NP_001317174.2:n.*11T>C | |
| NM_152264.5:c.993T>C | NP_689477.3:p.Pro331= |