Linked Data
dbSNP Id:
rs753882086
ExAC:
6:107955730 A / T
gnomAD v2:
6-107955730-A-T
gnomAD v4:
6-107634526-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634526A>T , CM000668.2:g.107634526A>T | GRCh38 |
| NC_000006.11:g.107955730A>T , CM000668.1:g.107955730A>T | GRCh37 |
| NC_000006.10:g.108062423A>T | NCBI36 |
| NG_028200.1:g.149414A>T | |
| NG_028200.2:g.149414A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.1682A>T MANE Select | ENSP00000318900.5:p.Asn561Ile | |
| ENST00000317357.9:c.1682A>T | ENSP00000318900.5:p.Asn561Ile | |
| NM_018013.3:c.1682A>T | NP_060483.3:p.Asn561Ile | |
| XM_005267041.3:c.1835A>T | XP_005267098.1:p.Asn612Ile | |
| XM_005267042.3:c.1739A>T | XP_005267099.1:p.Asn580Ile | |
| XM_011535920.1:c.1835A>T | XP_011534222.1:p.Asn612Ile | |
| XM_011535921.1:c.1721A>T | XP_011534223.1:p.Asn574Ile | |
| XM_011535922.1:c.1094A>T | XP_011534224.1:p.Asn365Ile | |
| XM_011535923.1:c.905A>T | XP_011534225.1:p.Asn302Ile | |
| XM_005267041.4:c.1835A>T | XP_005267098.1:p.Asn612Ile | |
| XM_005267042.4:c.1739A>T | XP_005267099.1:p.Asn580Ile | |
| XM_011535920.2:c.1835A>T | XP_011534222.1:p.Asn612Ile | |
| XM_011535921.2:c.1721A>T | XP_011534223.1:p.Asn574Ile | |
| XM_011535923.2:c.905A>T | XP_011534225.1:p.Asn302Ile | |
| XM_017010991.1:c.1235A>T | XP_016866480.1:p.Asn412Ile | |
| XM_017010992.1:c.1235A>T | XP_016866481.1:p.Asn412Ile | |
| XM_017010993.1:c.1235A>T | XP_016866482.1:p.Asn412Ile | |
| XM_017010994.1:c.1235A>T | XP_016866483.1:p.Asn412Ile | |
| NM_018013.4:c.1682A>T MANE Select | NP_060483.3:p.Asn561Ile |