Linked Data
dbSNP Id:
rs12139042
ExAC:
1:11167146 G / A
gnomAD v2:
1-11167146-G-A
gnomAD v3:
1-11107089-G-A
gnomAD v4:
1-11107089-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11107089G>A , CM000663.2:g.11107089G>A | GRCh38 |
| NC_000001.10:g.11167146G>A , CM000663.1:g.11167146G>A | GRCh37 |
| NC_000001.9:g.11089733G>A | NCBI36 |
| NG_033239.1:g.160463C>T , LRG_734:g.160463C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703118.1:c.*3421C>T | ENSP00000515181.1:n.*3421C>T | |
| ENST00000703131.1:n.3964C>T | ||
| ENST00000703139.1:c.2834C>T | ||
| ENST00000703140.1:c.*396C>T | ENSP00000515197.1:n.*396C>T | |
| ENST00000703141.1:c.*3563C>T | ENSP00000515198.1:n.*3563C>T | |
| ENST00000703142.1:c.*4876C>T | ENSP00000515199.1:n.*4876C>T | |
| ENST00000361445.9:c.*396C>T MANE Select | ENSP00000354558.4:n.*396C>T | |
| ENST00000361445.8:c.*396C>T | ENSP00000354558.4:n.*396C>T | |
| ENST00000376838.5:c.*396C>T | ENSP00000366034.1:n.*396C>T | |
| NM_004958.3:c.*396C>T , LRG_734t1:c.*396C>T | NP_004949.1:n.*396C>T | |
| XM_005263438.1:c.*396C>T | XP_005263495.1:n.*396C>T | |
| XM_005263438.2:c.*396C>T | XP_005263495.1:n.*396C>T | |
| XM_017000900.1:c.*396C>T | XP_016856389.1:n.*396C>T | |
| XM_017000901.1:c.*396C>T | XP_016856390.1:n.*396C>T | |
| XM_024446187.1:c.*396C>T | XP_024301955.1:n.*396C>T | |
| XR_001737087.1:n.8084C>T | ||
| NM_004958.4:c.*396C>T MANE Select | NP_004949.1:n.*396C>T | |
| NM_001386500.1:c.*396C>T | NP_001373429.1:n.*396C>T | |
| NM_001386501.1:c.*396C>T | NP_001373430.1:n.*396C>T |