Linked Data
dbSNP Id:
rs547155681
ExAC:
19:39998207 C / T
gnomAD v2:
19-39998207-C-T
gnomAD v3:
19-39507567-C-T
gnomAD v4:
19-39507567-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39507567C>T , CM000681.2:g.39507567C>T | GRCh38 |
| NC_000019.9:g.39998207C>T , CM000681.1:g.39998207C>T | GRCh37 |
| NC_000019.8:g.44690047C>T | NCBI36 |
| NG_008256.1:g.13651C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.1622C>T MANE Select | ENSP00000348810.4:p.Pro541Leu | |
| ENST00000205143.4:c.1622C>T | ENSP00000205143.3:p.Pro541Leu | |
| ENST00000356433.9:c.1622C>T | ENSP00000348810.4:p.Pro541Leu | |
| NM_016941.3:c.1622C>T | NP_058637.1:p.Pro541Leu | |
| NM_203486.2:c.1622C>T | NP_982353.1:p.Pro541Leu | |
| NM_016941.4:c.1622C>T | NP_058637.1:p.Pro541Leu | |
| NM_203486.3:c.1622C>T MANE Select | NP_982353.1:p.Pro541Leu |