Linked Data
dbSNP Id:
rs754227127
ExAC:
10:69955253 T / C
gnomAD v2:
10-69955253-T-C
gnomAD v3:
10-68195496-T-C
gnomAD v4:
10-68195496-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68195496T>C , CM000672.2:g.68195496T>C | GRCh38 |
| NC_000010.10:g.69955253T>C , CM000672.1:g.69955253T>C | GRCh37 |
| NC_000010.9:g.69625259T>C | NCBI36 |
| NG_032118.1:g.94380T>C , LRG_410:g.94380T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2297T>C | ENSP00000346369.2:p.Ile766Thr | |
| ENST00000540630.6:c.3176T>C | ENSP00000441668.3:p.Ile1059Thr | |
| ENST00000613327.5:c.3122T>C | ENSP00000480757.2:p.Ile1041Thr | |
| ENST00000688812.1:c.*385T>C | ENSP00000510658.1:n.*385T>C | |
| ENST00000690544.1:c.*2393T>C | ENSP00000508989.1:n.*2393T>C | |
| ENST00000358913.10:c.3122T>C MANE Select | ENSP00000351790.5:p.Ile1041Thr | |
| ENST00000354393.6:c.2297T>C | ENSP00000346369.2:p.Ile766Thr | |
| ENST00000358913.9:c.3122T>C | ENSP00000351790.5:p.Ile1041Thr | |
| ENST00000540630.5:c.3122T>C | ENSP00000441668.2:p.Ile1041Thr | |
| ENST00000613327.4:c.2240T>C | ENSP00000480757.1:p.Ile747Thr | |
| NM_001256267.1:c.3122T>C | NP_001243196.1:p.Ile1041Thr | |
| NM_001256268.1:c.2240T>C | NP_001243197.1:p.Ile747Thr | |
| NM_032578.3:c.3122T>C , LRG_410t1:c.3122T>C | NP_115967.2:p.Ile1041Thr | |
| NR_045662.3:n.2549T>C | ||
| NR_045663.3:n.3251T>C | ||
| XM_006718043.2:c.3176T>C | XP_006718106.1:p.Ile1059Thr | |
| XM_011540292.1:c.3152T>C | XP_011538594.1:p.Ile1051Thr | |
| XM_017016833.1:c.3200T>C | XP_016872322.1:p.Ile1067Thr | |
| XM_017016834.2:c.3122T>C | XP_016872323.1:p.Ile1041Thr | |
| XM_024448236.1:c.2000T>C | XP_024304004.1:p.Ile667Thr | |
| NR_045662.4:n.2659T>C | ||
| NR_045663.4:n.3196T>C | ||
| NM_001256267.2:c.3122T>C | NP_001243196.1:p.Ile1041Thr | |
| NM_001256268.2:c.2240T>C | NP_001243197.1:p.Ile747Thr | |
| NM_032578.4:c.3122T>C MANE Select | NP_115967.2:p.Ile1041Thr |