Linked Data
ClinVar Variation Id:
424290
ClinVar RCV Id:
RCV000480286
dbSNP Id:
rs1064796899
gnomAD v2:
18-20602152-C-T
gnomAD v3:
18-23022189-C-T
gnomAD v4:
18-23022189-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23022189C>T , CM000680.2:g.23022189C>T | GRCh38 |
| NC_000018.9:g.20602152C>T , CM000680.1:g.20602152C>T | GRCh37 |
| NC_000018.8:g.18856150C>T | NCBI36 |
| NG_012121.1:g.93858C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327155.10:c.2515C>T MANE Select | ENSP00000323050.5:p.Arg839Ter | |
| ENST00000327155.9:c.2515C>T | ENSP00000323050.5:p.Arg839Ter | |
| ENST00000360790.9:c.2530C>T | ENSP00000354024.5:p.Arg844Ter | |
| ENST00000399722.6:c.2515C>T | ENSP00000382628.2:p.Arg839Ter | |
| ENST00000399725.6:c.2418C>T | ENSP00000382630.2:p.Thr806= | |
| ENST00000581687.1:c.49C>T | ENSP00000463544.1:p.Arg17Ter | |
| ENST00000583057.1:c.789C>T | ENSP00000464691.1:p.Thr263= | |
| NM_002894.2:c.2515C>T | NP_002885.1:p.Arg839Ter | |
| NM_203291.1:c.2515C>T | NP_976036.1:p.Arg839Ter | |
| NM_203292.1:c.2418C>T | NP_976037.1:p.Thr806= | |
| XM_005258325.1:c.2445C>T | XP_005258382.1:p.Thr815= | |
| XM_005258326.2:c.1693C>T | XP_005258383.1:p.Arg565Ter | |
| XM_006722519.1:c.2515C>T | XP_006722582.1:p.Arg839Ter | |
| XM_006722520.1:c.2515C>T | XP_006722583.1:p.Arg839Ter | |
| XM_006722521.1:c.2515C>T | XP_006722584.1:p.Arg839Ter | |
| XM_011526132.1:c.2515C>T | XP_011524434.1:p.Arg839Ter | |
| XM_005258325.3:c.2445C>T | XP_005258382.1:p.Thr815= | |
| XM_005258326.4:c.1693C>T | XP_005258383.1:p.Arg565Ter | |
| XM_006722519.2:c.2515C>T | XP_006722582.1:p.Arg839Ter | |
| XM_006722520.2:c.2515C>T | XP_006722583.1:p.Arg839Ter | |
| XM_006722521.2:c.2515C>T | XP_006722584.1:p.Arg839Ter | |
| XM_011526132.2:c.2515C>T | XP_011524434.1:p.Arg839Ter | |
| XM_017025916.1:c.1623C>T | XP_016881405.1:p.Thr541= | |
| XM_024451233.1:c.2221C>T | XP_024307001.1:p.Arg741Ter | |
| NM_002894.3:c.2515C>T MANE Select | NP_002885.1:p.Arg839Ter | |
| NM_203291.2:c.2515C>T | NP_976036.1:p.Arg839Ter | |
| NM_203292.2:c.2418C>T | NP_976037.1:p.Thr806= |