Linked Data
ClinVar Variation Id:
178927
ClinVar RCV Id:
RCV000155702
RCV000709936
RCV000680469
RCV001154083
RCV001154084
RCV001537799
RCV001154085
dbSNP Id:
rs376797260
ExAC:
6:33140133 G / A
gnomAD v2:
6-33140133-G-A
gnomAD v3:
6-33172356-G-A
gnomAD v4:
6-33172356-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33172356G>A , CM000668.2:g.33172356G>A | GRCh38 |
| NC_000006.11:g.33140133G>A , CM000668.1:g.33140133G>A | GRCh37 |
| NC_000006.10:g.33248111G>A | NCBI36 |
| NG_011589.1:g.25113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.2921C>T MANE Select | ENSP00000339915.2:p.Ala974Val | |
| ENST00000341947.6:c.2921C>T | ENSP00000339915.2:p.Ala974Val | |
| ENST00000361917.5:c.2600C>T | ENSP00000355123.1:p.Ala867Val | |
| ENST00000374708.8:c.2663C>T | ENSP00000363840.4:p.Ala888Val | |
| ENST00000477772.1:n.272+4653C>T | ||
| NM_080679.2:c.2600C>T | NP_542410.2:p.Ala867Val | |
| NM_080680.2:c.2921C>T | NP_542411.2:p.Ala974Val | |
| NM_080681.2:c.2663C>T | NP_542412.2:p.Ala888Val | |
| XM_011514298.1:c.2075C>T | XP_011512600.1:p.Ala692Val | |
| XM_011514299.1:c.2207C>T | XP_011512601.1:p.Ala736Val | |
| XM_011514300.1:c.2027C>T | XP_011512602.1:p.Ala676Val | |
| XM_011514301.1:c.1964C>T | XP_011512603.1:p.Ala655Val | |
| XM_011514302.1:c.1808C>T | XP_011512604.1:p.Ala603Val | |
| XM_011514299.2:c.2207C>T | XP_011512601.1:p.Ala736Val | |
| XM_011514300.2:c.2027C>T | XP_011512602.1:p.Ala676Val | |
| XM_011514302.2:c.1808C>T | XP_011512604.1:p.Ala603Val | |
| XM_017010250.1:c.2921C>T | XP_016865739.1:p.Ala974Val | |
| XM_017010251.2:c.1739C>T | XP_016865740.1:p.Ala580Val | |
| NM_080680.3:c.2921C>T MANE Select | NP_542411.2:p.Ala974Val | |
| NM_080681.3:c.2663C>T | NP_542412.2:p.Ala888Val | |
| NM_080679.3:c.2600C>T | NP_542410.2:p.Ala867Val |