Linked Data
ClinVar Variation Id:
42
ClinVar RCV Id:
RCV000000059
dbSNP Id:
rs267607176
gnomAD v4:
19-36067415-G-C
PubMed:
PMID:20729831
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36067415G>C , CM000681.2:g.36067415G>C | GRCh38 |
| NC_000019.9:g.36558317G>C , CM000681.1:g.36558317G>C | GRCh37 |
| NC_000019.8:g.41250157G>C | NCBI36 |
| NG_028101.1:g.17535G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270301.12:c.671G>C | ENSP00000270301.6:p.Trp224Ser | |
| ENST00000401500.7:c.671G>C MANE Select | ENSP00000384792.1:p.Trp224Ser | |
| ENST00000427823.3:c.755G>C | ENSP00000413475.4:p.Trp252Ser | |
| ENST00000587391.6:c.671G>C | ENSP00000465525.1:p.Trp224Ser | |
| ENST00000589953.2:n.976G>C | ||
| ENST00000644764.2:c.671G>C | ENSP00000494253.2:p.Trp224Ser | |
| ENST00000679682.1:c.671G>C | ENSP00000506226.1:p.Trp224Ser | |
| ENST00000679714.1:c.671G>C | ENSP00000506627.1:p.Trp224Ser | |
| ENST00000679757.1:c.671G>C | ENSP00000505158.1:p.Trp224Ser | |
| ENST00000679858.1:c.671G>C | ENSP00000505655.1:p.Trp224Ser | |
| ENST00000680321.1:c.671G>C | ENSP00000505525.1:p.Trp224Ser | |
| ENST00000680359.1:c.671G>C | ENSP00000506079.1:p.Trp224Ser | |
| ENST00000680403.1:c.671G>C | ENSP00000505677.1:p.Trp224Ser | |
| ENST00000680489.1:n.994G>C | ||
| ENST00000680564.1:c.671G>C | ENSP00000505582.1:p.Trp224Ser | |
| ENST00000680590.1:c.671G>C | ENSP00000505350.1:p.Trp224Ser | |
| ENST00000680806.1:c.671G>C | ENSP00000506418.1:p.Trp224Ser | |
| ENST00000681542.1:c.671G>C | ENSP00000505251.1:p.Trp224Ser | |
| ENST00000681597.1:n.491G>C | ||
| ENST00000681625.1:c.671G>C | ENSP00000505555.1:p.Trp224Ser | |
| ENST00000681809.1:c.*270G>C | ENSP00000505740.1:n.*270G>C | |
| ENST00000270301.11:c.671G>C | ENSP00000270301.6:p.Trp224Ser | |
| ENST00000378860.8:n.762G>C | ||
| ENST00000401500.6:c.671G>C | ENSP00000384792.1:p.Trp224Ser | |
| ENST00000427823.2:c.737G>C | ENSP00000413475.3:p.Trp246Ser | |
| ENST00000587391.5:c.671G>C | ENSP00000465525.1:p.Trp224Ser | |
| NM_001083961.1:c.671G>C | NP_001077430.1:p.Trp224Ser | |
| NM_173636.4:c.671G>C | NP_775907.4:p.Trp224Ser | |
| XM_005258809.2:c.671G>C | XP_005258866.1:p.Trp224Ser | |
| XM_011526837.1:c.671G>C | XP_011525139.1:p.Trp224Ser | |
| XM_011526838.1:c.671G>C | XP_011525140.1:p.Trp224Ser | |
| XM_011526839.1:c.671G>C | XP_011525141.1:p.Trp224Ser | |
| XM_017026665.1:c.671G>C | XP_016882154.1:p.Trp224Ser | |
| XR_001753671.1:n.762G>C | ||
| XR_001753672.1:n.762G>C | ||
| NM_001083961.2:c.671G>C MANE Select | NP_001077430.1:p.Trp224Ser | |
| NM_173636.5:c.671G>C | NP_775907.4:p.Trp224Ser |