Linked Data
ClinVar Variation Id:
46565
ClinVar RCV Id:
RCV000039835
RCV000292997
RCV000352512
RCV000387271
RCV000408209
RCV001521761
RCV001582527
RCV001582528
dbSNP Id:
rs1799910
ExAC:
6:33139328 C / T
gnomAD v2:
6-33139328-C-T
gnomAD v3:
6-33171551-C-T
gnomAD v4:
6-33171551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171551C>T , CM000668.2:g.33171551C>T | GRCh38 |
| NC_000006.11:g.33139328C>T , CM000668.1:g.33139328C>T | GRCh37 |
| NC_000006.10:g.33247306C>T | NCBI36 |
| NG_011589.1:g.25918G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341947.7:c.3174G>A MANE Select | ENSP00000339915.2:p.Pro1058= | |
| ENST00000341947.6:c.3174G>A | ENSP00000339915.2:p.Pro1058= | |
| ENST00000361917.5:c.2853G>A | ENSP00000355123.1:p.Pro951= | |
| ENST00000374708.8:c.2916G>A | ENSP00000363840.4:p.Pro972= | |
| ENST00000477772.1:n.272+5458G>A | ||
| NM_080679.2:c.2853G>A | NP_542410.2:p.Pro951= | |
| NM_080680.2:c.3174G>A | NP_542411.2:p.Pro1058= | |
| NM_080681.2:c.2916G>A | NP_542412.2:p.Pro972= | |
| XM_011514298.1:c.2328G>A | XP_011512600.1:p.Pro776= | |
| XM_011514299.1:c.2460G>A | XP_011512601.1:p.Pro820= | |
| XM_011514300.1:c.2280G>A | XP_011512602.1:p.Pro760= | |
| XM_011514301.1:c.2217G>A | XP_011512603.1:p.Pro739= | |
| XM_011514302.1:c.2061G>A | XP_011512604.1:p.Pro687= | |
| XM_011514299.2:c.2460G>A | XP_011512601.1:p.Pro820= | |
| XM_011514300.2:c.2280G>A | XP_011512602.1:p.Pro760= | |
| XM_011514302.2:c.2061G>A | XP_011512604.1:p.Pro687= | |
| XM_017010250.1:c.3174G>A | XP_016865739.1:p.Pro1058= | |
| XM_017010251.2:c.1992G>A | XP_016865740.1:p.Pro664= | |
| NM_080680.3:c.3174G>A MANE Select | NP_542411.2:p.Pro1058= | |
| NM_080681.3:c.2916G>A | NP_542412.2:p.Pro972= | |
| NM_080679.3:c.2853G>A | NP_542410.2:p.Pro951= |