Linked Data
dbSNP Id:
rs749508700
ExAC:
1:231401058 G / T
gnomAD v2:
1-231401058-G-T
gnomAD v4:
1-231265312-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231265312G>T , CM000663.2:g.231265312G>T | GRCh38 |
| NC_000001.10:g.231401058G>T , CM000663.1:g.231401058G>T | GRCh37 |
| NC_000001.9:g.229467681G>T | NCBI36 |
| NG_008240.1:g.29140G>T | |
| NG_008240.2:g.29140G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.588G>T MANE Select | ENSP00000355607.4:p.Met196Ile | |
| ENST00000644483.1:c.*274G>T | ENSP00000496537.1:n.*274G>T | |
| ENST00000366647.8:c.588G>T | ENSP00000355607.4:p.Met196Ile | |
| ENST00000416000.1:c.558G>T | ENSP00000411640.1:p.Met186Ile | |
| ENST00000436239.5:c.405G>T | ENSP00000402811.1:p.Met135Ile | |
| NM_001316350.1:c.405G>T | NP_001303279.1:p.Met135Ile | |
| NM_014236.3:c.588G>T | NP_055051.1:p.Met196Ile | |
| XM_005273313.3:c.585G>T | XP_005273370.1:p.Met195Ile | |
| XM_011544303.1:c.261G>T | XP_011542605.1:p.Met87Ile | |
| XM_011544304.1:c.261G>T | XP_011542606.1:p.Met87Ile | |
| XM_005273313.4:c.585G>T | XP_005273370.1:p.Met195Ile | |
| XM_011544303.3:c.261G>T | XP_011542605.1:p.Met87Ile | |
| XM_011544304.2:c.261G>T | XP_011542606.1:p.Met87Ile | |
| NM_014236.4:c.588G>T MANE Select | NP_055051.1:p.Met196Ile | |
| NM_001316350.2:c.405G>T | NP_001303279.1:p.Met135Ile |