Linked Data
dbSNP Id:
rs10370
gnomAD v2:
6-160101532-T-G
gnomAD v3:
6-159680500-T-G
gnomAD v4:
6-159680500-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159680500T>G , CM000668.2:g.159680500T>G | GRCh38 |
| NC_000006.11:g.160101532T>G , CM000668.1:g.160101532T>G | GRCh37 |
| NC_000006.10:g.160021522T>G | NCBI36 |
| NG_008729.1:g.17822A>C | |
| NG_008729.3:g.87030A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000538183.7:c.*1993A>C MANE Select | ENSP00000446252.1:n.*1993A>C | |
| ENST00000367054.6:c.*20-1202A>C | ENSP00000356021.2:n.*20-1202A>C | |
| ENST00000367055.8:c.*20-1202A>C | ENSP00000356022.4:n.*20-1202A>C | |
| ENST00000538183.6:c.*1993A>C | ENSP00000446252.1:n.*1993A>C | |
| ENST00000546087.5:c.*20-1202A>C | ENSP00000442920.1:n.*20-1202A>C | |
| ENST00000546260.5:c.*2366A>C | ENSP00000440131.1:n.*2366A>C | |
| NM_001024465.1:c.*20-1202A>C | NP_001019636.1:n.*20-1202A>C | |
| NM_001024466.1:c.*20-1202A>C | NP_001019637.1:n.*20-1202A>C | |
| NM_000636.3:c.*1993A>C | NP_000627.2:n.*1993A>C | |
| NM_001024465.2:c.*20-1202A>C | NP_001019636.1:n.*20-1202A>C | |
| NM_001024466.2:c.*20-1202A>C | NP_001019637.1:n.*20-1202A>C | |
| NM_001322814.1:c.*1993A>C | NP_001309743.1:n.*1993A>C | |
| NM_001322815.1:c.*1993A>C | NP_001309744.1:n.*1993A>C | |
| NM_001322817.1:c.*20-1202A>C | NP_001309746.1:n.*20-1202A>C | |
| NM_001322819.1:c.*1993A>C | NP_001309748.1:n.*1993A>C | |
| NM_001322820.1:c.*1993A>C | NP_001309749.1:n.*1993A>C | |
| NM_000636.4:c.*1993A>C MANE Select | NP_000627.2:n.*1993A>C | |
| NM_001024465.3:c.*20-1202A>C | NP_001019636.1:n.*20-1202A>C | |
| NM_001024466.3:c.*20-1202A>C | NP_001019637.1:n.*20-1202A>C | |
| NM_001322814.2:c.*1993A>C | NP_001309743.1:n.*1993A>C | |
| NM_001322815.2:c.*1993A>C | NP_001309744.1:n.*1993A>C | |
| NM_001322817.2:c.*20-1202A>C | NP_001309746.1:n.*20-1202A>C | |
| NM_001322819.2:c.*1993A>C | NP_001309748.1:n.*1993A>C | |
| NM_001322820.2:c.*1993A>C | NP_001309749.1:n.*1993A>C |