Linked Data
ClinVar Variation Id:
444041
ClinVar RCV Id:
RCV000512627
dbSNP Id:
rs1555369135
gnomAD v4:
14-94382939-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94382939A>T , CM000676.2:g.94382939A>T | GRCh38 |
| NC_000014.8:g.94849276A>T , CM000676.1:g.94849276A>T | GRCh37 |
| NC_000014.7:g.93919029A>T | NCBI36 |
| NG_008290.1:g.12754T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393087.9:c.299T>A MANE Select | ENSP00000376802.4:p.Ile100Asn | |
| ENST00000636712.1:c.299T>A | ENSP00000490054.1:p.Ile100Asn | |
| ENST00000355814.8:c.299T>A | ENSP00000348068.4:p.Ile100Asn | |
| ENST00000393087.8:c.299T>A | ENSP00000376802.4:p.Ile100Asn | |
| ENST00000393088.8:c.299T>A | ENSP00000376803.4:p.Ile100Asn | |
| ENST00000402629.1:c.299T>A | ENSP00000386094.1:p.Ile100Asn | |
| ENST00000404814.8:c.299T>A | ENSP00000385960.4:p.Ile100Asn | |
| ENST00000437397.5:c.299T>A | ENSP00000408474.1:p.Ile100Asn | |
| ENST00000440909.5:c.299T>A | ENSP00000390299.1:p.Ile100Asn | |
| ENST00000448921.5:c.299T>A | ENSP00000416066.1:p.Ile100Asn | |
| ENST00000449399.7:c.299T>A | ENSP00000416354.3:p.Ile100Asn | |
| ENST00000489769.1:c.299T>A | ENSP00000451525.1:p.Ile100Asn | |
| ENST00000554720.1:c.41T>A | ENSP00000450561.1:p.Ile14Asn | |
| ENST00000556091.1:c.299T>A | ENSP00000452169.1:p.Ile100Asn | |
| ENST00000556955.5:c.299T>A | ENSP00000451098.1:p.Ile100Asn | |
| ENST00000557492.5:c.299T>A | ENSP00000452452.1:p.Ile100Asn | |
| NM_000295.4:c.299T>A | NP_000286.3:p.Ile100Asn | |
| NM_001002235.2:c.299T>A | NP_001002235.1:p.Ile100Asn | |
| NM_001002236.2:c.299T>A | NP_001002236.1:p.Ile100Asn | |
| NM_001127700.1:c.299T>A | NP_001121172.1:p.Ile100Asn | |
| NM_001127701.1:c.299T>A | NP_001121173.1:p.Ile100Asn | |
| NM_001127702.1:c.299T>A | NP_001121174.1:p.Ile100Asn | |
| NM_001127703.1:c.299T>A | NP_001121175.1:p.Ile100Asn | |
| NM_001127704.1:c.299T>A | NP_001121176.1:p.Ile100Asn | |
| NM_001127705.1:c.299T>A | NP_001121177.1:p.Ile100Asn | |
| NM_001127706.1:c.299T>A | NP_001121178.1:p.Ile100Asn | |
| NM_001127707.1:c.299T>A | NP_001121179.1:p.Ile100Asn | |
| XM_017021370.1:c.299T>A | XP_016876859.1:p.Ile100Asn | |
| NM_000295.5:c.299T>A MANE Select | NP_000286.3:p.Ile100Asn | |
| NM_001002235.3:c.299T>A | NP_001002235.1:p.Ile100Asn | |
| NM_001002236.3:c.299T>A | NP_001002236.1:p.Ile100Asn | |
| NM_001127700.2:c.299T>A | NP_001121172.1:p.Ile100Asn | |
| NM_001127701.2:c.299T>A | NP_001121173.1:p.Ile100Asn | |
| NM_001127702.2:c.299T>A | NP_001121174.1:p.Ile100Asn | |
| NM_001127703.2:c.299T>A | NP_001121175.1:p.Ile100Asn | |
| NM_001127704.2:c.299T>A | NP_001121176.1:p.Ile100Asn | |
| NM_001127705.2:c.299T>A | NP_001121177.1:p.Ile100Asn | |
| NM_001127706.2:c.299T>A | NP_001121178.1:p.Ile100Asn | |
| NM_001127707.2:c.299T>A | NP_001121179.1:p.Ile100Asn |