Linked Data
dbSNP Id:
rs746116192
ExAC:
2:220037548 A / G
gnomAD v2:
2-220037548-A-G
gnomAD v3:
2-219172826-A-G
gnomAD v4:
2-219172826-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219172826A>G , CM000664.2:g.219172826A>G | GRCh38 |
| NC_000002.11:g.220037548A>G , CM000664.1:g.220037548A>G | GRCh37 |
| NC_000002.10:g.219745792A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360507.10:c.993T>C MANE Select | ENSP00000353698.5:p.Thr331= | |
| ENST00000360507.9:c.993T>C | ENSP00000353698.5:p.Thr331= | |
| ENST00000409789.5:c.993T>C | ENSP00000386277.1:p.Thr331= | |
| NM_015680.4:c.993T>C | NP_056495.3:p.Thr331= | |
| XM_005246462.2:c.993T>C | XP_005246519.1:p.Thr331= | |
| XM_005246463.3:c.993T>C | XP_005246520.1:p.Thr331= | |
| XM_006712419.1:c.993T>C | XP_006712482.1:p.Thr331= | |
| NM_001321389.1:c.993T>C | NP_001308318.1:p.Thr331= | |
| NM_001321390.1:c.993T>C | NP_001308319.1:p.Thr331= | |
| NM_001321391.1:c.993T>C | NP_001308320.1:p.Thr331= | |
| NM_015680.5:c.993T>C | NP_056495.3:p.Thr331= | |
| NR_135628.1:n.1038T>C | ||
| NR_135629.1:n.1096T>C | ||
| XM_024452790.1:c.1023T>C | XP_024308558.1:p.Thr341= | |
| NM_015680.6:c.993T>C MANE Select | NP_056495.4:p.Thr331= | |
| NM_001321390.2:c.993T>C | NP_001308319.2:p.Thr331= | |
| NM_001321391.2:c.993T>C | NP_001308320.2:p.Thr331= | |
| NR_135628.2:n.1021T>C | ||
| NR_135629.2:n.1028T>C | ||
| NM_001321389.2:c.993T>C | NP_001308318.2:p.Thr331= |