Linked Data
dbSNP Id:
rs772764578
ExAC:
7:87031578 G / C
gnomAD v2:
7-87031578-G-C
gnomAD v4:
7-87402262-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87402262G>C , CM000669.2:g.87402262G>C | GRCh38 |
| NC_000007.13:g.87031578G>C , CM000669.1:g.87031578G>C | GRCh37 |
| NC_000007.12:g.86869514G>C | NCBI36 |
| NG_007118.1:g.83171C>G | |
| NG_007118.2:g.83171C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.3674C>G | ENSP00000352135.3:p.Thr1225Ser | |
| ENST00000649586.2:c.3674C>G MANE Select | ENSP00000496956.2:p.Thr1225Ser | |
| ENST00000265723.8:c.3695C>G | ENSP00000265723.4:p.Thr1232Ser | |
| ENST00000358400.7:c.3533C>G | ENSP00000351172.3:p.Thr1178Ser | |
| ENST00000359206.7:c.3674C>G | ENSP00000352135.3:p.Thr1225Ser | |
| ENST00000440025.1:c.108C>G | ||
| ENST00000453593.5:c.3533C>G | ENSP00000392983.1:p.Thr1178Ser | |
| ENST00000467983.1:n.286C>G | ||
| NM_000443.3:c.3674C>G | NP_000434.1:p.Thr1225Ser | |
| NM_018849.2:c.3695C>G | NP_061337.1:p.Thr1232Ser | |
| NM_018850.2:c.3533C>G | NP_061338.1:p.Thr1178Ser | |
| XM_011516308.1:c.3695C>G | XP_011514610.1:p.Thr1232Ser | |
| XM_011516309.1:c.3674C>G | XP_011514611.1:p.Thr1225Ser | |
| XM_011516310.1:c.3590C>G | XP_011514612.1:p.Thr1197Ser | |
| XM_011516311.1:c.3566C>G | XP_011514613.1:p.Thr1189Ser | |
| XM_011516312.1:c.3554C>G | XP_011514614.1:p.Thr1185Ser | |
| XM_011516313.1:c.3533C>G | XP_011514615.1:p.Thr1178Ser | |
| XM_011516314.1:c.3716C>G | XP_011514616.1:p.Thr1239Ser | |
| XM_011516315.1:c.3035C>G | XP_011514617.1:p.Thr1012Ser | |
| XM_011516308.3:c.3965C>G | XP_011514610.3:p.Thr1322Ser | |
| XM_011516309.3:c.3944C>G | XP_011514611.3:p.Thr1315Ser | |
| XM_011516310.3:c.3860C>G | XP_011514612.3:p.Thr1287Ser | |
| XM_011516311.3:c.3836C>G | XP_011514613.3:p.Thr1279Ser | |
| XM_011516312.3:c.3824C>G | XP_011514614.3:p.Thr1275Ser | |
| XM_011516313.3:c.3803C>G | XP_011514615.2:p.Thr1268Ser | |
| XM_011516315.3:c.3035C>G | XP_011514617.2:p.Thr1012Ser | |
| XM_017012323.2:c.3695C>G | XP_016867812.1:p.Thr1232Ser | |
| XR_001744809.2:n.4203C>G | ||
| NM_000443.4:c.3674C>G MANE Select | NP_000434.1:p.Thr1225Ser | |
| NM_018849.3:c.3695C>G | NP_061337.1:p.Thr1232Ser | |
| NM_018850.3:c.3533C>G | NP_061338.1:p.Thr1178Ser |