Linked Data
dbSNP Id:
rs752256973
ExAC:
4:88964477 C / T
gnomAD v2:
4-88964477-C-T
gnomAD v4:
4-88043325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88043325C>T , CM000666.2:g.88043325C>T | GRCh38 |
| NC_000004.11:g.88964477C>T , CM000666.1:g.88964477C>T | GRCh37 |
| NC_000004.10:g.89183501C>T | NCBI36 |
| NG_008604.1:g.40658C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1187C>T MANE Select | ENSP00000237596.2:p.Ser396Leu | |
| ENST00000237596.6:c.1187C>T | ENSP00000237596.2:p.Ser396Leu | |
| ENST00000506367.1:n.634C>T | ||
| ENST00000508588.5:c.-331C>T | ENSP00000427131.1:n.-331C>T | |
| NM_000297.3:c.1187C>T | NP_000288.1:p.Ser396Leu | |
| XM_011532028.1:c.1095-3317C>T | XP_011530330.1:n.1095-3317C>T | |
| XM_011532029.1:c.467C>T | XP_011530331.1:p.Ser156Leu | |
| XM_011532030.1:c.347C>T | XP_011530332.1:p.Ser116Leu | |
| XR_244632.2:n.1282C>T | ||
| NR_156488.1:n.1274C>T | ||
| XM_011532028.2:c.1095-3317C>T | XP_011530330.1:n.1095-3317C>T | |
| XM_011532030.2:c.347C>T | XP_011530332.1:p.Ser116Leu | |
| NM_000297.4:c.1187C>T MANE Select | NP_000288.1:p.Ser396Leu | |
| NR_156488.2:n.1286C>T |