Linked Data
ClinVar Variation Id:
1477178
ClinVar RCV Id:
RCV001998302
dbSNP Id:
rs2147648215
gnomAD v4:
X-77508463-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508463A>G , CM000685.2:g.77508463A>G | GRCh38 |
| NC_000023.10:g.76763941A>G , CM000685.1:g.76763941A>G | GRCh37 |
| NC_000023.9:g.76650597A>G | NCBI36 |
| NG_008838.2:g.282759T>C | |
| NG_008838.3:g.282807T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7367T>C MANE Select | ENSP00000362441.4:p.Met2456Thr | |
| ENST00000675732.1:c.2465T>C | ENSP00000502598.1:p.Met822Thr | |
| ENST00000373344.9:c.7367T>C | ENSP00000362441.4:p.Met2456Thr | |
| ENST00000395603.7:c.7253T>C | ENSP00000378967.3:p.Met2418Thr | |
| ENST00000480283.5:c.*6995T>C | ENSP00000480196.1:n.*6995T>C | |
| ENST00000623706.3:n.5687T>C | ||
| NM_000489.4:c.7367T>C | NP_000480.3:p.Met2456Thr | |
| NM_138270.3:c.7253T>C | NP_612114.2:p.Met2418Thr | |
| XM_005262153.3:c.7364T>C | XP_005262210.2:p.Met2455Thr | |
| XM_005262154.3:c.7280T>C | XP_005262211.2:p.Met2427Thr | |
| XM_005262155.3:c.7250T>C | XP_005262212.2:p.Met2417Thr | |
| XM_005262156.3:c.7202T>C | XP_005262213.2:p.Met2401Thr | |
| XM_005262157.3:c.7163T>C | XP_005262214.2:p.Met2388Thr | |
| XM_006724666.2:c.7250T>C | XP_006724729.1:p.Met2417Thr | |
| XM_006724667.2:c.7088T>C | XP_006724730.1:p.Met2363Thr | |
| XR_938400.1:n.8959T>C | ||
| NM_000489.5:c.7367T>C | NP_000480.3:p.Met2456Thr | |
| XM_005262153.5:c.7364T>C | XP_005262210.2:p.Met2455Thr | |
| XM_005262154.5:c.7280T>C | XP_005262211.2:p.Met2427Thr | |
| XM_005262155.4:c.7250T>C | XP_005262212.2:p.Met2417Thr | |
| XM_005262156.4:c.7202T>C | XP_005262213.2:p.Met2401Thr | |
| XM_005262157.5:c.7163T>C | XP_005262214.2:p.Met2388Thr | |
| XM_006724666.4:c.7250T>C | XP_006724729.1:p.Met2417Thr | |
| XM_006724667.3:c.7088T>C | XP_006724730.1:p.Met2363Thr | |
| XM_017029601.2:c.7277T>C | XP_016885090.1:p.Met2426Thr | |
| XM_017029602.1:c.7247T>C | XP_016885091.1:p.Met2416Thr | |
| XM_017029603.1:c.7199T>C | XP_016885092.1:p.Met2400Thr | |
| XM_017029604.2:c.7166T>C | XP_016885093.1:p.Met2389Thr | |
| XM_017029605.1:c.7163T>C | XP_016885094.1:p.Met2388Thr | |
| XM_017029606.2:c.7136T>C | XP_016885095.1:p.Met2379Thr | |
| XM_017029607.2:c.7133T>C | XP_016885096.1:p.Met2378Thr | |
| XM_017029608.2:c.7085T>C | XP_016885097.1:p.Met2362Thr | |
| XM_017029609.1:c.7049T>C | XP_016885098.1:p.Met2350Thr | |
| XM_017029610.1:c.7046T>C | XP_016885099.1:p.Met2349Thr | |
| XM_017029611.1:c.7001T>C | XP_016885100.1:p.Met2334Thr | |
| XR_001755700.2:n.7666T>C | ||
| NM_138270.4:c.7253T>C | NP_612114.2:p.Met2418Thr | |
| NM_000489.6:c.7367T>C MANE Select | NP_000480.3:p.Met2456Thr | |
| NM_138270.5:c.7253T>C | NP_612114.2:p.Met2418Thr |