Linked Data
dbSNP Id:
rs775121250
ExAC:
2:44105047 T / C
gnomAD v2:
2-44105047-T-C
gnomAD v4:
2-43877908-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877908T>C , CM000664.2:g.43877908T>C | GRCh38 |
| NC_000002.11:g.44105047T>C , CM000664.1:g.44105047T>C | GRCh37 |
| NC_000002.10:g.43958551T>C | NCBI36 |
| NG_008884.1:g.43945T>C | |
| NG_008884.2:g.50967T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.2017T>C MANE Select | ENSP00000272286.2:p.Trp673Arg | |
| ENST00000272286.2:c.2017T>C | ENSP00000272286.2:p.Trp673Arg | |
| NM_022437.2:c.2017T>C | NP_071882.1:p.Trp673Arg | |
| XM_005264483.2:c.2014T>C | XP_005264540.1:p.Trp672Arg | |
| XM_011533029.1:c.2029T>C | XP_011531331.1:p.Trp677Arg | |
| XM_011533030.1:c.2026T>C | XP_011531332.1:p.Trp676Arg | |
| XM_011533031.1:c.1801T>C | XP_011531333.1:p.Trp601Arg | |
| XR_939707.1:n.2519T>C | ||
| NM_001357321.1:c.2014T>C | NP_001344250.1:p.Trp672Arg | |
| XM_011533029.2:c.2029T>C | XP_011531331.1:p.Trp677Arg | |
| XM_011533030.2:c.2026T>C | XP_011531332.1:p.Trp676Arg | |
| XR_001738891.1:n.2533T>C | ||
| XR_939707.2:n.2533T>C | ||
| NM_022437.3:c.2017T>C MANE Select | NP_071882.1:p.Trp673Arg | |
| NM_001357321.2:c.2014T>C | NP_001344250.1:p.Trp672Arg |