Linked Data
ClinVar Variation Id:
2472607
ClinVar RCV Id:
RCV003208027
dbSNP Id:
rs540572488
ExAC:
2:215845307 A / G
gnomAD v2:
2-215845307-A-G
gnomAD v3:
2-214980583-A-G
gnomAD v4:
2-214980583-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214980583A>G , CM000664.2:g.214980583A>G | GRCh38 |
| NC_000002.11:g.215845307A>G , CM000664.1:g.215845307A>G | GRCh37 |
| NC_000002.10:g.215553552A>G | NCBI36 |
| NG_007074.1:g.162845T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4640T>C MANE Select | ENSP00000272895.7:p.Ile1547Thr | |
| ENST00000272895.11:c.4640T>C | ENSP00000272895.7:p.Ile1547Thr | |
| ENST00000389661.4:c.3686T>C | ENSP00000374312.4:p.Ile1229Thr | |
| NM_015657.3:c.3686T>C | NP_056472.2:p.Ile1229Thr | |
| NM_173076.2:c.4640T>C | NP_775099.2:p.Ile1547Thr | |
| NR_103740.1:n.4940T>C | ||
| XM_011510951.1:c.4649T>C | XP_011509253.1:p.Ile1550Thr | |
| XM_011510952.1:c.4649T>C | XP_011509254.1:p.Ile1550Thr | |
| XM_011510951.2:c.4649T>C | XP_011509253.1:p.Ile1550Thr | |
| NM_173076.3:c.4640T>C MANE Select | NP_775099.2:p.Ile1547Thr | |
| NR_103740.2:n.5138T>C | ||
| NM_015657.4:c.3686T>C | NP_056472.2:p.Ile1229Thr |