Linked Data
dbSNP Id:
rs2115148094
gnomAD v4:
6-107634830-C-T
MyVariant Identifiers:
chr6:g.107956034C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634830C>T , CM000668.2:g.107634830C>T | GRCh38 |
| NC_000006.11:g.107956034C>T , CM000668.1:g.107956034C>T | GRCh37 |
| NC_000006.10:g.108062727C>T | NCBI36 |
| NG_028200.1:g.149718C>T | |
| NG_028200.2:g.149718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317357.10:c.1986C>T MANE Select | ENSP00000318900.5:p.Ala662= | |
| ENST00000317357.9:c.1986C>T | ENSP00000318900.5:p.Ala662= | |
| NM_018013.3:c.1986C>T | NP_060483.3:p.Ala662= | |
| XM_005267041.3:c.2139C>T | XP_005267098.1:p.Ala713= | |
| XM_005267042.3:c.2043C>T | XP_005267099.1:p.Ala681= | |
| XM_011535920.1:c.2139C>T | XP_011534222.1:p.Ala713= | |
| XM_011535921.1:c.2025C>T | XP_011534223.1:p.Ala675= | |
| XM_011535922.1:c.1398C>T | XP_011534224.1:p.Ala466= | |
| XM_011535923.1:c.1209C>T | XP_011534225.1:p.Ala403= | |
| XM_005267041.4:c.2139C>T | XP_005267098.1:p.Ala713= | |
| XM_005267042.4:c.2043C>T | XP_005267099.1:p.Ala681= | |
| XM_011535920.2:c.2139C>T | XP_011534222.1:p.Ala713= | |
| XM_011535921.2:c.2025C>T | XP_011534223.1:p.Ala675= | |
| XM_011535923.2:c.1209C>T | XP_011534225.1:p.Ala403= | |
| XM_017010991.1:c.1539C>T | XP_016866480.1:p.Ala513= | |
| XM_017010992.1:c.1539C>T | XP_016866481.1:p.Ala513= | |
| XM_017010993.1:c.1539C>T | XP_016866482.1:p.Ala513= | |
| XM_017010994.1:c.1539C>T | XP_016866483.1:p.Ala513= | |
| NM_018013.4:c.1986C>T MANE Select | NP_060483.3:p.Ala662= |