Linked Data
dbSNP Id:
rs370877714
ExAC:
X:153761797 A / G
gnomAD v2:
X-153761797-A-G
gnomAD v4:
X-154533582-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154533582A>G , CM000685.2:g.154533582A>G | GRCh38 |
| NC_000023.10:g.153761797A>G , CM000685.1:g.153761797A>G | GRCh37 |
| NC_000023.9:g.153414991A>G | NCBI36 |
| NG_009015.2:g.18991T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.858T>C | ENSP00000377194.2:p.Asp286= | |
| ENST00000439227.6:c.861T>C | ENSP00000395599.2:p.Asp287= | |
| ENST00000696420.1:c.858T>C | ENSP00000512615.1:p.Asp286= | |
| ENST00000696421.1:c.858T>C | ENSP00000512616.1:p.Asp286= | |
| ENST00000696422.1:c.721T>C | ||
| ENST00000696423.1:c.724T>C | ||
| ENST00000696424.1:c.710T>C | ENSP00000512619.1:p.Met237Thr | |
| ENST00000696425.1:c.858T>C | ENSP00000512620.1:p.Asp286= | |
| ENST00000696426.1:c.858T>C | ENSP00000512621.1:p.Asp286= | |
| ENST00000696427.1:c.858T>C | ENSP00000512622.1:p.Asp286= | |
| ENST00000696428.1:c.*700T>C | ENSP00000512623.1:n.*700T>C | |
| ENST00000696429.1:c.858T>C | ENSP00000512624.1:p.Asp286= | |
| ENST00000696430.1:c.858T>C | ENSP00000512625.1:p.Asp286= | |
| ENST00000393562.10:c.858T>C MANE Select | ENSP00000377192.3:p.Asp286= | |
| ENST00000369620.6:c.996T>C | ENSP00000358633.2:p.Asp332= | |
| ENST00000393562.6:c.948T>C | ENSP00000377192.2:p.Asp316= | |
| ENST00000393564.6:c.858T>C | ENSP00000377194.2:p.Asp286= | |
| ENST00000439227.5:c.861T>C | ENSP00000395599.1:p.Asp287= | |
| ENST00000440967.5:c.861T>C | ENSP00000400648.1:p.Asp287= | |
| ENST00000489497.1:n.247T>C | ||
| ENST00000621232.4:c.858T>C | ENSP00000483686.1:p.Asp286= | |
| NM_000402.4:c.948T>C | NP_000393.4:p.Asp316= | |
| NM_001042351.2:c.858T>C | NP_001035810.1:p.Asp286= | |
| XM_005274657.2:c.951T>C | XP_005274714.1:p.Asp317= | |
| XM_005274658.2:c.861T>C | XP_005274715.1:p.Asp287= | |
| XM_011531132.1:c.951T>C | XP_011529434.1:p.Asp317= | |
| NM_001360016.2:c.858T>C MANE Select | NP_001346945.1:p.Asp286= | |
| NM_001042351.3:c.858T>C | NP_001035810.1:p.Asp286= |