Linked Data
ClinVar Variation Id:
536160
dbSNP Id:
rs200834352
ExAC:
2:74589828 C / T
gnomAD v2:
2-74589828-C-T
gnomAD v3:
2-74362701-C-T
gnomAD v4:
2-74362701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74362701C>T , CM000664.2:g.74362701C>T | GRCh38 |
| NC_000002.11:g.74589828C>T , CM000664.1:g.74589828C>T | GRCh37 |
| NC_000002.10:g.74443336C>T | NCBI36 |
| NG_008735.2:g.34387G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.3543G>A | ENSP00000354791.4:p.Met1181Ile | |
| ENST00000628224.3:c.3558G>A MANE Select | ENSP00000487279.2:p.Met1186Ile | |
| ENST00000680606.1:c.3507G>A | ENSP00000505612.1:p.Met1169Ile | |
| ENST00000361874.7:c.3558G>A | ENSP00000354791.3:p.Met1186Ile | |
| ENST00000394003.7:c.3537G>A | ENSP00000377571.3:p.Met1179Ile | |
| ENST00000409240.5:c.3432G>A | ENSP00000386406.1:p.Met1144Ile | |
| ENST00000409438.5:c.3141G>A | ENSP00000387270.1:p.Met1047Ile | |
| ENST00000409567.7:c.3483G>A | ENSP00000386843.3:p.Met1161Ile | |
| ENST00000409868.5:c.3492G>A | ENSP00000387327.1:p.Met1164Ile | |
| ENST00000434055.5:c.*842G>A | ENSP00000416711.1:n.*842G>A | |
| ENST00000451608.2:c.297G>A | ENSP00000416453.2:p.Met99Ile | |
| ENST00000466110.5:n.4795G>A | ||
| ENST00000491465.5:n.1821G>A | ||
| ENST00000492717.1:n.229G>A | ||
| ENST00000497666.1:n.97-1164G>A | ||
| ENST00000628224.2:c.3492G>A | ENSP00000487279.1:p.Met1164Ile | |
| ENST00000633691.1:c.3156G>A | ENSP00000487724.1:p.Met1052Ile | |
| NM_001135040.2:c.3483G>A | NP_001128512.1:p.Met1161Ile | |
| NM_001135041.2:c.3141G>A | NP_001128513.1:p.Met1047Ile | |
| NM_001190836.1:c.3432G>A | NP_001177765.1:p.Met1144Ile | |
| NM_001190837.1:c.3537G>A | NP_001177766.1:p.Met1179Ile | |
| NM_004082.4:c.3558G>A | NP_004073.2:p.Met1186Ile | |
| NM_023019.3:c.3156G>A | NP_075408.1:p.Met1052Ile | |
| NR_033935.1:n.3827G>A | ||
| NM_001135040.3:c.3483G>A | NP_001128512.1:p.Met1161Ile | |
| NM_001135041.3:c.3141G>A | NP_001128513.1:p.Met1047Ile | |
| NM_001190836.2:c.3432G>A | NP_001177765.1:p.Met1144Ile | |
| NM_001190837.2:c.3537G>A | NP_001177766.1:p.Met1179Ile | |
| NM_001378991.1:c.3507G>A | NP_001365920.1:p.Met1169Ile | |
| NM_001378992.1:c.3489G>A | NP_001365921.1:p.Met1163Ile | |
| NM_004082.5:c.3558G>A MANE Select | NP_004073.2:p.Met1186Ile | |
| NM_023019.4:c.3156G>A | NP_075408.1:p.Met1052Ile | |
| NR_033935.2:n.3606G>A |