Linked Data
ClinVar Variation Id:
445938
dbSNP Id:
rs200997332
ExAC:
X:153220876 C / T
gnomAD v2:
X-153220876-C-T
gnomAD v3:
X-153955425-C-T
gnomAD v4:
X-153955425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153955425C>T , CM000685.2:g.153955425C>T | GRCh38 |
| NC_000023.10:g.153220876C>T , CM000685.1:g.153220876C>T | GRCh37 |
| NC_000023.9:g.152874070C>T | NCBI36 |
| NG_012513.1:g.20944G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310441.12:c.2974G>A MANE Select | ENSP00000309555.7:p.Ala992Thr | |
| ENST00000310441.11:c.2974G>A | ENSP00000309555.7:p.Ala992Thr | |
| ENST00000369984.4:c.2974G>A | ENSP00000359001.4:p.Ala992Thr | |
| NM_005334.2:c.2974G>A | NP_005325.2:p.Ala992Thr | |
| XM_006724815.1:c.2974G>A | XP_006724878.1:p.Ala992Thr | |
| XM_006724816.1:c.2974G>A | XP_006724879.1:p.Ala992Thr | |
| XM_011531144.1:c.2974G>A | XP_011529446.1:p.Ala992Thr | |
| XM_011531145.1:c.2974G>A | XP_011529447.1:p.Ala992Thr | |
| XM_011531146.1:c.2974G>A | XP_011529448.1:p.Ala992Thr | |
| XM_011531147.1:c.2974G>A | XP_011529449.1:p.Ala992Thr | |
| XM_011531148.1:c.2974G>A | XP_011529450.1:p.Ala992Thr | |
| XM_011531149.1:c.2776G>A | XP_011529451.1:p.Ala926Thr | |
| XM_011531150.1:c.2065G>A | XP_011529452.1:p.Ala689Thr | |
| XM_006724815.3:c.2974G>A | XP_006724878.1:p.Ala992Thr | |
| XM_006724816.3:c.2974G>A | XP_006724879.1:p.Ala992Thr | |
| XM_011531147.3:c.2974G>A | XP_011529449.1:p.Ala992Thr | |
| XM_011531148.3:c.2974G>A | XP_011529450.1:p.Ala992Thr | |
| XM_017029471.2:c.2776G>A | XP_016884960.1:p.Ala926Thr | |
| XM_017029472.1:c.2065G>A | XP_016884961.1:p.Ala689Thr | |
| NM_005334.3:c.2974G>A MANE Select | NP_005325.2:p.Ala992Thr |