Linked Data
ClinVar Variation Id:
13479
ClinVar RCV Id:
RCV000014423
RCV000014422
RCV000035353
RCV000057858
RCV000157255
RCV000247942
RCV000399257
RCV000709727
RCV000852954
RCV001195103
RCV003224097
dbSNP Id:
rs1805128
gnomAD v4:
21-34449382-C-T
MyVariant Identifiers:
chr21:g.34449382C>T (hg38)
PubMed:
PMID:8899564
PMID:9445165
PMID:10807545
PMID:12402336
PMID:14661677
PMID:14760488
PMID:15051636
PMID:15599693
PMID:16132053
PMID:16266404
PMID:16487223
PMID:16556865
PMID:16556866
PMID:16823764
PMID:16887036
PMID:16922724
PMID:17016049
PMID:17161064
PMID:17210839
PMID:18426444
PMID:19305408
PMID:19521339
PMID:19695459
PMID:20823649
PMID:21244686
PMID:21712262
PMID:22100668
PMID:22378279
PMID:22581653
PMID:22995991
PMID:22999324
PMID:23861362
PMID:24400172
PMID:24499369
PMID:25737393
PMID:26132555
PMID:26715165
PMID:27509294
PMID:28003625
PMID:28491674
PMID:28600387
PMID:29431662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34449382C>T , CM000683.2:g.34449382C>T | GRCh38 |
| NG_009091.1:g.66934G>A , LRG_290:g.66934G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399286.3:c.253G>A MANE Select | ENSP00000382226.2:p.Asp85Asn | |
| ENST00000337385.7:c.253G>A | ENSP00000337255.3:p.Asp85Asn | |
| ENST00000399284.1:c.253G>A | ENSP00000382225.1:p.Asp85Asn | |
| ENST00000399286.2:c.253G>A | ENSP00000382226.2:p.Asp85Asn | |
| ENST00000399289.7:c.253G>A | ENSP00000382228.3:p.Asp85Asn | |
| ENST00000416357.6:c.253G>A | ENSP00000416258.2:p.Asp85Asn | |
| ENST00000432085.5:c.253G>A | ENSP00000412498.1:p.Asp85Asn | |
| ENST00000611936.1:c.253G>A | ENSP00000478215.1:p.Asp85Asn | |
| ENST00000621601.4:c.253G>A | ENSP00000483895.1:p.Asp85Asn | |
| NM_000219.5:c.253G>A | NP_000210.2:p.Asp85Asn | |
| NM_001127668.3:c.253G>A | NP_001121140.1:p.Asp85Asn | |
| NM_001127669.3:c.253G>A | NP_001121141.1:p.Asp85Asn | |
| NM_001127670.3:c.253G>A | NP_001121142.1:p.Asp85Asn | |
| NM_001270402.2:c.253G>A | NP_001257331.1:p.Asp85Asn | |
| NM_001270403.2:c.253G>A | NP_001257332.1:p.Asp85Asn | |
| NM_001270404.2:c.253G>A | NP_001257333.1:p.Asp85Asn | |
| NM_001270405.2:c.253G>A | NP_001257334.1:p.Asp85Asn | |
| XM_011529555.1:c.13+6004G>A | XP_011527857.1:n.13+6004G>A | |
| XM_011529557.1:c.279+9272G>A | XP_011527859.1:n.279+9272G>A | |
| XM_017028342.1:c.316G>A | XP_016883831.1:p.Asp106Asn | |
| NM_000219.6:c.253G>A MANE Select | NP_000210.2:p.Asp85Asn | |
| NM_001127669.4:c.253G>A | NP_001121141.1:p.Asp85Asn | |
| NM_001127668.4:c.253G>A | NP_001121140.1:p.Asp85Asn | |
| NM_001127670.4:c.253G>A | NP_001121142.1:p.Asp85Asn | |
| NM_001270402.3:c.253G>A | NP_001257331.1:p.Asp85Asn | |
| NM_001270404.3:c.253G>A | NP_001257333.1:p.Asp85Asn | |
| NM_001270405.3:c.253G>A | NP_001257334.1:p.Asp85Asn |