Linked Data
ClinVar Variation Id:
317688
ClinVar RCV Id:
RCV000330475
dbSNP Id:
rs144735718
ExAC:
16:11000396 T / C
gnomAD v2:
16-11000396-T-C
gnomAD v3:
16-10906539-T-C
gnomAD v4:
16-10906539-T-C
MyVariant Identifiers:
chr16:g.11000396T>C (hg19)
chr16:g.11000396_11000397delinsCG (hg19)
chr16:g.10906539T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.10906539T>C , CM000678.2:g.10906539T>C | GRCh38 |
| NC_000016.9:g.11000396T>C , CM000678.1:g.11000396T>C | GRCh37 |
| NC_000016.8:g.10907897T>C | NCBI36 |
| NG_009628.1:g.34342T>C , LRG_49:g.34342T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695879.1:n.1072T>C | ||
| ENST00000324288.14:c.1047T>C MANE Select | ENSP00000316328.8:p.Tyr349= | |
| ENST00000324288.12:c.1047T>C | ENSP00000316328.8:p.Tyr349= | |
| ENST00000381835.9:c.859+1727T>C | ENSP00000371257.5:n.859+1727T>C | |
| ENST00000537380.1:n.1006+1727T>C | ||
| ENST00000570546.5:n.1168T>C | ||
| ENST00000573309.5:n.1018T>C | ||
| ENST00000611587.4:c.903T>C | ENSP00000483487.1:p.Tyr301= | |
| ENST00000618207.4:c.1006+1727T>C | ENSP00000484761.1:n.1006+1727T>C | |
| ENST00000618327.4:c.1050T>C | ENSP00000485010.1:p.Tyr350= | |
| NM_000246.3:c.1047T>C , LRG_49t1:c.1047T>C | NP_000237.2:p.Tyr349= | |
| NM_001286402.1:c.1050T>C | NP_001273331.1:p.Tyr350= | |
| NM_001286403.1:c.859+1727T>C | NP_001273332.1:n.859+1727T>C | |
| NR_104444.1:n.1139+1727T>C | ||
| XM_006720880.2:c.1344T>C | XP_006720943.2:p.Tyr448= | |
| XM_011522484.1:c.1344T>C | XP_011520786.1:p.Tyr448= | |
| XM_011522485.1:c.1344T>C | XP_011520787.1:p.Tyr448= | |
| XM_011522486.1:c.1344T>C | XP_011520788.1:p.Tyr448= | |
| XM_011522487.1:c.1098T>C | XP_011520789.1:p.Tyr366= | |
| XM_011522488.1:c.1095T>C | XP_011520790.1:p.Tyr365= | |
| XM_011522489.1:c.1095T>C | XP_011520791.1:p.Tyr365= | |
| XM_011522490.1:c.1092T>C | XP_011520792.1:p.Tyr364= | |
| XM_011522491.1:c.1344T>C | XP_011520793.1:p.Tyr448= | |
| XM_011522492.1:c.1050T>C | XP_011520794.1:p.Tyr350= | |
| XM_011522493.1:c.1047T>C | XP_011520795.1:p.Tyr349= | |
| XM_011522494.1:c.978T>C | XP_011520796.1:p.Tyr326= | |
| XM_011522495.1:c.903T>C | XP_011520797.1:p.Tyr301= | |
| XM_011522496.1:c.900T>C | XP_011520798.1:p.Tyr300= | |
| XR_932841.1:n.1359T>C | ||
| XR_932842.1:n.1359T>C | ||
| XR_932843.1:n.1359T>C | ||
| XR_932846.1:n.1359T>C | ||
| XR_932847.1:n.1359T>C | ||
| XR_932848.1:n.1009+1727T>C | ||
| XM_006720880.3:c.1344T>C | XP_006720943.2:p.Tyr448= | |
| XM_011522484.3:c.1344T>C | XP_011520786.1:p.Tyr448= | |
| XM_011522485.2:c.1344T>C | XP_011520787.1:p.Tyr448= | |
| XM_011522486.2:c.1344T>C | XP_011520788.1:p.Tyr448= | |
| XM_011522487.2:c.1098T>C | XP_011520789.1:p.Tyr366= | |
| XM_011522488.2:c.1095T>C | XP_011520790.1:p.Tyr365= | |
| XM_011522489.2:c.1095T>C | XP_011520791.1:p.Tyr365= | |
| XM_011522490.2:c.1092T>C | XP_011520792.1:p.Tyr364= | |
| XM_011522491.2:c.1344T>C | XP_011520793.1:p.Tyr448= | |
| XM_011522492.2:c.1050T>C | XP_011520794.1:p.Tyr350= | |
| XM_011522493.2:c.1047T>C | XP_011520795.1:p.Tyr349= | |
| XM_011522494.2:c.978T>C | XP_011520796.1:p.Tyr326= | |
| XM_011522495.2:c.903T>C | XP_011520797.1:p.Tyr301= | |
| XM_011522496.2:c.900T>C | XP_011520798.1:p.Tyr300= | |
| XM_024450280.1:c.1290T>C | XP_024306048.1:p.Tyr430= | |
| XM_024450281.1:c.1143T>C | XP_024306049.1:p.Tyr381= | |
| XR_001751904.1:n.1363T>C | ||
| XR_932841.3:n.1361T>C | ||
| XR_932842.2:n.1361T>C | ||
| XR_932846.3:n.1363T>C | ||
| XR_932847.3:n.1363T>C | ||
| NM_001286403.2:c.859+1727T>C | NP_001273332.1:n.859+1727T>C | |
| NR_104444.2:n.1135+1727T>C | ||
| NM_000246.4:c.1047T>C MANE Select | NP_000237.2:p.Tyr349= | |
| NM_001379330.1:c.903T>C | NP_001366259.1:p.Tyr301= | |
| NM_001379331.1:c.900T>C | NP_001366260.1:p.Tyr300= | |
| NM_001379332.1:c.1050T>C | NP_001366261.1:p.Tyr350= | |
| NM_001379333.1:c.1047T>C | NP_001366262.1:p.Tyr349= | |
| NM_001379334.1:c.978T>C | NP_001366263.1:p.Tyr326= |