Linked Data
dbSNP Id:
rs747553118
ExAC:
5:127673748 C / G
gnomAD v2:
5-127673748-C-G
gnomAD v4:
5-128338056-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128338056C>G , CM000667.2:g.128338056C>G | GRCh38 |
| NC_000005.9:g.127673748C>G , CM000667.1:g.127673748C>G | GRCh37 |
| NC_000005.8:g.127701647C>G | NCBI36 |
| NG_008750.1:g.204988G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.323G>C | ||
| ENST00000703785.1:n.404G>C | ||
| ENST00000262464.9:c.3539G>C MANE Select | ENSP00000262464.4:p.Ser1180Thr | |
| ENST00000262464.8:c.3539G>C | ENSP00000262464.4:p.Ser1180Thr | |
| ENST00000507835.5:c.89G>C | ENSP00000426839.1:p.Ser30Thr | |
| ENST00000508053.5:c.3539G>C | ENSP00000424571.1:p.Ser1180Thr | |
| ENST00000508989.5:c.3440G>C | ENSP00000425596.1:p.Ser1147Thr | |
| ENST00000619499.4:c.3536G>C | ENSP00000482132.1:p.Ser1179Thr | |
| NM_001999.3:c.3539G>C | NP_001990.2:p.Ser1180Thr | |
| XM_017009228.2:c.3386G>C | XP_016864717.1:p.Ser1129Thr | |
| NM_001999.4:c.3539G>C MANE Select | NP_001990.2:p.Ser1180Thr |