Linked Data
ClinVar Variation Id:
17126
ClinVar RCV Id:
RCV000018664
dbSNP Id:
rs121912949
PubMed:
PMID:10677296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33174048G>T , CM000668.2:g.33174048G>T | GRCh38 |
| NC_000006.11:g.33141825G>T , CM000668.1:g.33141825G>T | GRCh37 |
| NC_000006.10:g.33249803G>T | NCBI36 |
| NG_011589.1:g.23421C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.1065C>A | ||
| ENST00000341947.7:c.2492C>A MANE Select | ENSP00000339915.2:p.Ser831Ter | |
| ENST00000341947.6:c.2492C>A | ENSP00000339915.2:p.Ser831Ter | |
| ENST00000361917.5:c.2171C>A | ENSP00000355123.1:p.Ser724Ter | |
| ENST00000374708.8:c.2234C>A | ENSP00000363840.4:p.Ser745Ter | |
| ENST00000477772.1:n.272+2961C>A | ||
| NM_080679.2:c.2171C>A | NP_542410.2:p.Ser724Ter | |
| NM_080680.2:c.2492C>A | NP_542411.2:p.Ser831Ter | |
| NM_080681.2:c.2234C>A | NP_542412.2:p.Ser745Ter | |
| XM_011514298.1:c.1646C>A | XP_011512600.1:p.Ser549Ter | |
| XM_011514299.1:c.1778C>A | XP_011512601.1:p.Ser593Ter | |
| XM_011514300.1:c.1598C>A | XP_011512602.1:p.Ser533Ter | |
| XM_011514301.1:c.1535C>A | XP_011512603.1:p.Ser512Ter | |
| XM_011514302.1:c.1379C>A | XP_011512604.1:p.Ser460Ter | |
| XM_011514299.2:c.1778C>A | XP_011512601.1:p.Ser593Ter | |
| XM_011514300.2:c.1598C>A | XP_011512602.1:p.Ser533Ter | |
| XM_011514302.2:c.1379C>A | XP_011512604.1:p.Ser460Ter | |
| XM_017010250.1:c.2492C>A | XP_016865739.1:p.Ser831Ter | |
| XM_017010251.2:c.1310C>A | XP_016865740.1:p.Ser437Ter | |
| NM_080680.3:c.2492C>A MANE Select | NP_542411.2:p.Ser831Ter | |
| NM_080681.3:c.2234C>A | NP_542412.2:p.Ser745Ter | |
| NM_080679.3:c.2171C>A | NP_542410.2:p.Ser724Ter |