Linked Data
ClinVar Variation Id:
356389
ClinVar RCV Id:
RCV000280238
RCV000300075
RCV000408334
RCV000408369
RCV000657971
RCV002523565
RCV000609757
dbSNP Id:
rs534570825
ExAC:
6:33137233 G / A
gnomAD v2:
6-33137233-G-A
gnomAD v3:
6-33169456-G-A
gnomAD v4:
6-33169456-G-A
COSMIC:
COSM3873091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33169456G>A , CM000668.2:g.33169456G>A | GRCh38 |
| NC_000006.11:g.33137233G>A , CM000668.1:g.33137233G>A | GRCh37 |
| NC_000006.10:g.33245211G>A | NCBI36 |
| NG_011589.1:g.28013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3725C>T MANE Select | ENSP00000339915.2:p.Ser1242Leu | |
| ENST00000341947.6:c.3725C>T | ENSP00000339915.2:p.Ser1242Leu | |
| ENST00000361917.5:c.3404C>T | ENSP00000355123.1:p.Ser1135Leu | |
| ENST00000374708.8:c.3467C>T | ENSP00000363840.4:p.Ser1156Leu | |
| ENST00000477772.1:n.273-3640C>T | ||
| NM_080679.2:c.3404C>T | NP_542410.2:p.Ser1135Leu | |
| NM_080680.2:c.3725C>T | NP_542411.2:p.Ser1242Leu | |
| NM_080681.2:c.3467C>T | NP_542412.2:p.Ser1156Leu | |
| XM_011514298.1:c.2879C>T | XP_011512600.1:p.Ser960Leu | |
| XM_011514299.1:c.3011C>T | XP_011512601.1:p.Ser1004Leu | |
| XM_011514300.1:c.2831C>T | XP_011512602.1:p.Ser944Leu | |
| XM_011514301.1:c.2768C>T | XP_011512603.1:p.Ser923Leu | |
| XM_011514302.1:c.2612C>T | XP_011512604.1:p.Ser871Leu | |
| XM_011514299.2:c.3011C>T | XP_011512601.1:p.Ser1004Leu | |
| XM_011514300.2:c.2831C>T | XP_011512602.1:p.Ser944Leu | |
| XM_011514302.2:c.2612C>T | XP_011512604.1:p.Ser871Leu | |
| XM_017010250.1:c.3725C>T | XP_016865739.1:p.Ser1242Leu | |
| XM_017010251.2:c.2543C>T | XP_016865740.1:p.Ser848Leu | |
| NM_080680.3:c.3725C>T MANE Select | NP_542411.2:p.Ser1242Leu | |
| NM_080681.3:c.3467C>T | NP_542412.2:p.Ser1156Leu | |
| NM_080679.3:c.3404C>T | NP_542410.2:p.Ser1135Leu |