Linked Data
ClinVar Variation Id:
299187
ClinVar RCV Id:
RCV000294761
dbSNP Id:
rs780837512
ExAC:
10:127477544 C / T
gnomAD v2:
10-127477544-C-T
gnomAD v3:
10-125788975-C-T
gnomAD v4:
10-125788975-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788975C>T , CM000672.2:g.125788975C>T | GRCh38 |
| NC_000010.10:g.127477544C>T , CM000672.1:g.127477544C>T | GRCh37 |
| NC_000010.9:g.127467534C>T | NCBI36 |
| NG_011557.1:g.39294G>A | |
| NG_011557.2:g.39294G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.691G>A | ENSP00000518871.1:p.Ala231Thr | |
| ENST00000368797.10:c.691G>A MANE Select | ENSP00000357787.4:p.Ala231Thr | |
| ENST00000465577.6:c.711G>A | ||
| ENST00000648427.1:c.*689G>A | ENSP00000497909.1:n.*689G>A | |
| ENST00000649536.1:c.691G>A | ENSP00000497817.1:p.Ala231Thr | |
| ENST00000650185.1:c.841G>A | ||
| ENST00000650472.1:n.3077G>A | ||
| ENST00000650524.1:c.604G>A | ENSP00000498108.1:n.604G>A | |
| ENST00000650587.1:c.772G>A | ENSP00000497366.1:p.Ala258Thr | |
| ENST00000368786.5:c.691G>A | ENSP00000357775.1:p.Ala231Thr | |
| ENST00000368797.8:c.691G>A | ENSP00000357787.4:p.Ala231Thr | |
| ENST00000464267.1:n.788G>A | ||
| ENST00000465577.5:n.333G>A | ||
| ENST00000470483.1:n.379G>A | ||
| ENST00000484541.5:n.464G>A | ||
| ENST00000616800.4:c.161-3715G>A | ||
| ENST00000622016.4:c.241-3136G>A | ENSP00000483041.1:n.241-3136G>A | |
| NM_000375.2:c.691G>A | NP_000366.1:p.Ala231Thr | |
| XM_005270137.2:c.772G>A | XP_005270194.1:p.Ala258Thr | |
| XM_005270138.2:c.691G>A | XP_005270195.1:p.Ala231Thr | |
| XM_005270139.2:c.661-3136G>A | XP_005270196.1:n.661-3136G>A | |
| XM_006717960.2:c.772G>A | XP_006718023.1:p.Ala258Thr | |
| XM_011540127.1:c.661-3715G>A | XP_011538429.1:n.661-3715G>A | |
| XR_246103.2:n.871G>A | ||
| XR_945810.1:n.1101G>A | ||
| NM_000375.3:c.691G>A MANE Select | NP_000366.1:p.Ala231Thr | |
| NM_001324036.1:c.772G>A | NP_001310965.1:p.Ala258Thr | |
| NM_001324037.1:c.691G>A | NP_001310966.1:p.Ala231Thr | |
| NM_001324038.1:c.610G>A | NP_001310967.1:p.Ala204Thr | |
| NR_136675.1:n.776G>A | ||
| NR_136676.1:n.1203G>A | ||
| NR_136677.1:n.927-3136G>A | ||
| NR_136678.1:n.687G>A | ||
| XM_011540127.2:c.661-3715G>A | XP_011538429.1:n.661-3715G>A | |
| XM_017016611.2:c.772G>A | XP_016872100.2:p.Ala258Thr | |
| XM_017016612.2:c.661-3136G>A | XP_016872101.1:n.661-3136G>A | |
| XM_024448154.1:c.691G>A | XP_024303922.1:p.Ala231Thr | |
| XR_002957010.1:n.2030G>A | ||
| XR_246103.3:n.886G>A | ||
| XR_945810.2:n.1116G>A | ||
| NM_001324036.2:c.772G>A | NP_001310965.1:p.Ala258Thr | |
| NM_001324037.2:c.691G>A | NP_001310966.1:p.Ala231Thr | |
| NM_001324038.2:c.610G>A | NP_001310967.1:p.Ala204Thr | |
| NR_136675.2:n.766G>A | ||
| NR_136676.2:n.1193G>A | ||
| NR_136678.2:n.677G>A | ||
| NR_136677.2:n.917-3136G>A |