Linked Data
ClinVar Variation Id:
13165
ClinVar RCV Id:
RCV000014051
RCV000084987
RCV000149464
RCV000149466
RCV001075516
RCV001250378
RCV001378481
RCV001530305
dbSNP Id:
rs121918563
gnomAD v2:
6-42689519-A-G
gnomAD v3:
6-42721781-A-G
gnomAD v4:
6-42721781-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721781A>G , CM000668.2:g.42721781A>G | GRCh38 |
| NC_000006.11:g.42689519A>G , CM000668.1:g.42689519A>G | GRCh37 |
| NC_000006.10:g.42797497A>G | NCBI36 |
| NG_009176.1:g.5840T>C | |
| NG_009176.2:g.5840T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230381.7:c.554T>C MANE Select | ENSP00000230381.5:p.Leu185Pro | |
| ENST00000230381.6:c.554T>C | ENSP00000230381.5:p.Leu185Pro | |
| NM_000322.4:c.554T>C | NP_000313.2:p.Leu185Pro | |
| XR_427834.2:n.1209T>C | ||
| XR_926295.1:n.1209T>C | ||
| XR_427834.4:n.1259T>C | ||
| XR_926295.3:n.1259T>C | ||
| NM_000322.5:c.554T>C MANE Select | NP_000313.2:p.Leu185Pro |