Linked Data
dbSNP Id:
rs1452499775
gnomAD v3:
1-16986036-G-A
gnomAD v4:
1-16986036-G-A
COSMIC:
COSM4489063
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986036G>A , CM000663.2:g.16986036G>A | GRCh38 |
| NC_000001.10:g.17312531G>A , CM000663.1:g.17312531G>A | GRCh37 |
| NC_000001.9:g.17185118G>A | NCBI36 |
| NG_009054.1:g.30893C>T | |
| NG_029688.1:g.551C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.*185C>T MANE Select | ENSP00000327214.8:n.*185C>T | |
| ENST00000326735.12:c.*185C>T | ENSP00000327214.8:n.*185C>T | |
| ENST00000341676.9:c.3426C>T | ENSP00000341115.5:p.Ile1142= | |
| ENST00000452699.5:c.*185C>T | ENSP00000413307.1:n.*185C>T | |
| ENST00000466561.1:n.1774C>T | ||
| ENST00000502418.1:c.1146C>T | ENSP00000423065.1:p.Ile382= | |
| NM_001141973.2:c.*185C>T | NP_001135445.1:n.*185C>T | |
| NM_001141974.2:c.3426C>T | NP_001135446.1:p.Ile1142= | |
| NM_022089.3:c.*185C>T | NP_071372.1:n.*185C>T | |
| XM_005245809.1:c.3558C>T | XP_005245866.1:p.Ile1186= | |
| XM_005245810.1:c.3555C>T | XP_005245867.1:p.Ile1185= | |
| XM_005245811.1:c.3543C>T | XP_005245868.1:p.Ile1181= | |
| XM_005245812.1:c.3531C>T | XP_005245869.1:p.Ile1177= | |
| XM_005245813.1:c.3498C>T | XP_005245870.1:p.Ile1166= | |
| XM_005245815.1:c.3441C>T | XP_005245872.1:p.Ile1147= | |
| XM_006710512.1:c.3540C>T | XP_006710575.1:p.Ile1180= | |
| XM_006710513.1:c.3516C>T | XP_006710576.1:p.Ile1172= | |
| XM_011541128.1:c.3543C>T | XP_011539430.1:p.Ile1181= | |
| XM_011541129.1:c.3351C>T | XP_011539431.1:p.Ile1117= | |
| XM_017000844.1:c.*185C>T | XP_016856333.1:n.*185C>T | |
| XM_017000845.1:c.*185C>T | XP_016856334.1:n.*185C>T | |
| XM_017000846.1:c.*185C>T | XP_016856335.1:n.*185C>T | |
| XM_017000847.1:c.*185C>T | XP_016856336.1:n.*185C>T | |
| XM_017000848.1:c.*185C>T | XP_016856337.1:n.*185C>T | |
| XM_017000849.1:c.*185C>T | XP_016856338.1:n.*185C>T | |
| XM_017000850.1:c.*185C>T | XP_016856339.1:n.*185C>T | |
| NM_022089.4:c.*185C>T MANE Select | NP_071372.1:n.*185C>T | |
| NM_001141973.3:c.*185C>T | NP_001135445.1:n.*185C>T | |
| NM_001141974.3:c.3426C>T | NP_001135446.1:p.Ile1142= |