Linked Data
dbSNP Id:
rs184163357
gnomAD v2:
3-128780461-A-C
gnomAD v3:
3-129061618-A-C
gnomAD v4:
3-129061618-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061618A>C , CM000665.2:g.129061618A>C | GRCh38 |
| NC_000003.11:g.128780461A>C , CM000665.1:g.128780461A>C | GRCh37 |
| NC_000003.10:g.130263151A>C | NCBI36 |
| NG_008715.1:g.5817A>C , LRG_477:g.5817A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.-14A>C MANE Select | ENSP00000303942.4:n.-14A>C | |
| ENST00000307395.4:c.-14A>C | ENSP00000303942.4:n.-14A>C | |
| NM_000174.4:c.-14A>C , LRG_477t1:c.-14A>C | NP_000165.1:n.-14A>C | |
| XM_005247374.3:c.-14A>C | XP_005247431.1:n.-14A>C | |
| XM_011512701.1:c.-14A>C | XP_011511003.1:n.-14A>C | |
| XM_011512702.1:c.-12-110A>C | XP_011511004.1:n.-12-110A>C | |
| NM_000174.5:c.-14A>C MANE Select | NP_000165.1:n.-14A>C |