Linked Data
dbSNP Id:
rs1218178561
gnomAD v2:
14-21878040-A-G
gnomAD v3:
14-21409881-A-G
gnomAD v4:
14-21409881-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21409881A>G , CM000676.2:g.21409881A>G | GRCh38 |
| NC_000014.8:g.21878040A>G , CM000676.1:g.21878040A>G | GRCh37 |
| NC_000014.7:g.20947880A>G | NCBI36 |
| NG_021249.1:g.32418T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.1497T>C | ENSP00000406288.3:p.Ile499= | |
| ENST00000555935.2:c.10T>C | ||
| ENST00000555962.6:c.-110-6839T>C | ENSP00000495174.1:n.-110-6839T>C | |
| ENST00000557364.6:c.2334T>C | ENSP00000451601.1:p.Ile778= | |
| ENST00000643469.1:c.2334T>C | ENSP00000495070.1:p.Ile778= | |
| ENST00000645140.1:c.2246T>C | ||
| ENST00000645206.1:n.848T>C | ||
| ENST00000645929.1:c.1497T>C | ENSP00000494402.1:p.Ile499= | |
| ENST00000646340.1:c.2340T>C | ENSP00000496730.1:p.Ile780= | |
| ENST00000646647.2:c.2334T>C MANE Select | ENSP00000495240.1:p.Ile778= | |
| ENST00000399982.6:c.2334T>C | ENSP00000382863.2:p.Ile778= | |
| ENST00000430710.7:c.1497T>C | ENSP00000406288.3:p.Ile499= | |
| ENST00000554384.1:n.202T>C | ||
| ENST00000555935.1:c.10T>C | ||
| ENST00000555962.5:n.151-6839T>C | ||
| ENST00000557364.5:c.2334T>C | ENSP00000451601.1:p.Ile778= | |
| NM_001170629.1:c.2334T>C | NP_001164100.1:p.Ile778= | |
| NM_020920.3:c.1497T>C | NP_065971.2:p.Ile499= | |
| NM_001170629.2:c.2334T>C MANE Select | NP_001164100.1:p.Ile778= | |
| NM_020920.4:c.1497T>C | NP_065971.2:p.Ile499= |